Next generation sequencing reveals a novel pathogenic variant in the ATMgene
Introduction: Ataxia telangiectasia (A-T) is a uncommon autosomal recessive multisystemic illness. Sufferers with the A-T syndrome current a broad spectrum of illness phenotypes. The ATM (ataxia telangiectasia mutated) gene, the one causative gene for A-T.
Methodology: A affected person of Persian origin presenting with typical A-T was referred to our genetics middle for specialised genetic counseling and testing. Focused next-generation sequencing (NGS) was utilized. Sanger sequencing was used to substantiate the candidate variant. Modeling was carried out utilizing the SWISS-MODEL server.Outcomes: A homozygous stop-gain variant c.829G > T (p.E277*) was discovered within the ATM gene. This variant was confirmed by Sanger sequencing and modeling of native construction and truncated construction was carried out.
Conclusion: Thus far, only a few pathogenic variants of the ATM gene have been reported from the Iranian inhabitants. The discovering has implications in molecular diagnostic for A-T in Iran.

Neoliquiritin |
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HY-N2123 | MedChemExpress | 1mg | EUR 204 |
Isosakuranetin |
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HY-N2131 | MedChemExpress | 5mg | EUR 187 |
Flavokawain B |
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HY-N2132 | MedChemExpress | 5mg | EUR 142 |
Mirificin |
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HY-N2134 | MedChemExpress | 1mg | EUR 139 |
Vicenin 2 |
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HY-N2165 | MedChemExpress | 10mg | EUR 509 |
Acetylshengmanol Arabinoside |
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HY-N2170 | MedChemExpress | 5mg | EUR 640 |
Sibiricose A6 |
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HY-N2172 | MedChemExpress | 20mg | EUR 640 |
Forsythoside E |
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HY-N2173 | MedChemExpress | 10mg | EUR 443 |
Cixiophiopogon A |
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HY-N2175 | MedChemExpress | 5mg | EUR 705 |
Saikosaponin F |
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HY-N2178 | MedChemExpress | 1mg | EUR 243 |
Hypaphorine |
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HY-N2179 | MedChemExpress | 10mg | EUR 705 |
Pinoresinol dimethyl ether |
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HY-N2180 | MedChemExpress | 1mg | EUR 108 |
Acetylshikonin |
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HY-N2181 | MedChemExpress | 10mg | EUR 243 |
Episyringaresinol 4'-O-β-D-glncopyranoside |
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HY-N2182 | MedChemExpress | 10mg | EUR 838 |
Baimaside |
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HY-N2183 | MedChemExpress | 10mg | EUR 320 |
(5R,6E)-5-Hydroxy-1,7-diphenyl-6-hepten-3-one |
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HY-N2185 | MedChemExpress | 10mg | EUR 574 |
Deoxyshikonin |
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HY-N2187 | MedChemExpress | 5mg | EUR 342 |
Hederagenin 28-O-beta-D-glucopyranosyl ester |
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HY-N2190 | MedChemExpress | 5mg | EUR 1034 |
Ecliptasaponin D |
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HY-N2191 | MedChemExpress | 10mg | EUR 359 |
Hirsutine |
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HY-N2193 | MedChemExpress | 5mg | EUR 1362 |
Bergamottin |
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HY-N2194 | MedChemExpress | 25mg | EUR 497 |
Hirsuteine |
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HY-N2197 | MedChemExpress | 1mg | EUR 443 |
Podocarpusflavone A |
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HY-N2198 | MedChemExpress | 10mg | EUR 436 |
Sotetsuflavone |
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HY-N2199 | MedChemExpress | 5mg | EUR 807 |
Pseudoginsenoside RT1 |
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HY-N2201 | MedChemExpress | 1mg | EUR 204 |
Vitexin2''-O-p-coumarate |
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HY-N2203 | MedChemExpress | 5mg | EUR 1034 |
Esculentoside H |
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HY-N2205 | MedChemExpress | 10mg | EUR 640 |
rel-(8R,8'R)-Dimethyl-(7S,7'R)-bis(3,4-methylenedioxyphenyl)tetrahydro-furan |
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HY-N2207 | MedChemExpress | 5mg | EUR 1034 |
4-Hydroxylonchocarpin |
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HY-N2208 | MedChemExpress | 10mg | EUR 640 |
Angeloylgomisin H |
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HY-N2209 | MedChemExpress | 1mg | EUR 153 |
5,7,4'-Trihydroxy-8-Methylflavanone |
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HY-N2210 | MedChemExpress | 5mg | EUR 1034 |
Picfeltarraenin IB |
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7-O-Methylaloeresin A |
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Aloeresin D |
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Rotundic acid |
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Jionoside B1 |
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HY-N2218 | MedChemExpress | 5mg | EUR 509 |
6-Formyl-isoophiopogonanone A |
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HY-N2220 | MedChemExpress | 5mg | EUR 838 |
Guaijaverin |
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HY-N2224 | MedChemExpress | 5mg | EUR 320 |
(-)-Epigallocatechin-3-(3''-O-methyl) gallate |
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Rhapontigenin |
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N-p-trans-Coumaroyltyramine |
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Ganolactone B |
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Piceatannol 3'-O-glucoside |
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Dipsanoside A |
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6-Methoxykaempferol 3-O-Rutinoside |
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HY-N2239 | MedChemExpress | 1mg | EUR 487 |
Eupalinolide K |
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Hosenkoside F |
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Hosenkoside G |
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Hosenkoside K |
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Gomisin H |
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Hosenkoside A |
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Hosenkoside B |
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HY-N2250 | MedChemExpress | 5mg | EUR 326 |
Crebanine |
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HY-N2255 | MedChemExpress | 20mg | EUR 443 |
(-)-Salutaridine |
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Curcumenol |
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(-)-Cephaeline (dihydrochloride) |
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Ipecoside |
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8-Geranyloxypsoralen |
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Skimmin |
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Gymnemagenin |
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Angeloylgomisin O |
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23-Hydroxylongispinogenin |
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21-O-Tigloylgymnemagenin |
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Kurarinone |
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Deltonin |
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Sophoflavescenol |
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Fabiatrin |
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2''-O-Rhamnosylicariside II |
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Baohuoside VII |
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Rebaudioside G |
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6"-O-Apiosyl-5-O-Methylvisammioside |
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(2R,3R)-3,7-Dihydroxy-2-(4-hydroxyphenyl)-5-methoxy-8-(3-methylbut-2-en-1-yl)chroman-4-one |
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Camellianin A |
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Kuwanon A |
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Fucoxanthin |
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Aclacinomycin A hydrochloride |
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Kainic acid |
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Ibotenic acid |
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Mogrol |
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4'-Demethylpodophyllotoxin |
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D-(+)-Cellobiose |
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Oleamide |
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Coumestrol |
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11beta-Hydroxyprogesterone |
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Cholesterol myristate |
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Cholesteryl behenate |
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Palmitelaidic Acid |
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Procyanidin C1 |
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HY-N2342 | MedChemExpress | 10mg | EUR 681 |
Familial dilated cardiomyopathy brought on by a novel variant within the Lamin A/C gene: a case report
Background: Familial dilated cardiomyopathy (FDCM) is mostly inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been recognized to be related to DCM, conductive system problems, kind 2 Emery-Dreifuss muscular dystrophy and a number of other different problems. Right here, we reported a novel variant within the LMNA gene that is likely to be associated to FDCM.
Case presentation: A 30-year-old younger man was hospitalized for chest tightness, excessive fatigue, palpitation and impaired exercise tolerance. He had scientific traits together with cardiac dilatation, atrial tachyarrhythmia, extreme conductive system problems, and dyskinesia of each higher limbs and the neck. Genetic sequence evaluation indicated that the affected person carried a novel c.1325 T>C heterozygous LMNA gene variant. Catheter ablation and cardiac resynchronization remedy with pacing perform (CRT-P) have been carried out to deal with the arrhythmia.
Conclusion: The variant c.1325 T>C is a novel variant within the LMNA gene that has not been beforehand reported. Younger sufferers with DCM, conductive system problems and skeletal myopathy ought to be alert to the potential for LMNA gene variant. Cardiac resynchronization remedy (CRT) could also be an affordable selection for affected person carrying a LMNA gene variant with third-degree atrioventricular block even when the left ventricular ejection fraction is preserved with the intention to stop the deterioration of cardiac perform brought on by proper ventricular pacing dependency.
Genetic evaluation of kids with congenital ocular anomalies in three ecological areas of Nepal: a section II of Nepal pediatric ocular illnesses research
Background: Genetic eye illnesses represent a big and heterogeneous group of childhood ocular morbidity. Particular person illnesses could trigger a number of structural anomalies and developmental options. Nepal Pediatric Ocular Illness Research (NPODS) was a population-based epidemiological research carried out throughout three ecological areas of Nepal to find out the prevalence and etiology of childhood ocular morbidity and blindness. In Part II of this research, genetic evaluation was carried out for kids who have been discovered to have congenital ocular anomalies.
Methodology: It was a cross sectional descriptive research. A complete of 10,270 youngsters throughout three totally different ecological areas in Nepal (Low lands, hills, and mountains) underwent ocular examinations in NPODS. Out of 374 (3.6%) of kids with ocular abnormalities, 30 have been considered congenital in nature. Focused genetic evaluation, together with genotyping for genes particular to presenting phenotype, was carried out for 25 youngsters utilizing serum samples.
Outcomes: Out of 25 youngsters, 18 had significant genetic outcomes. Evaluation revealed one missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in a single participant amongst 10 with congenital ptosis and one other missense variation T > C P. Y374 C of Signaling Receptor and Transporter Retinol 6 (STRA6) gene in a single participant amongst Three with microphthalmos.
Conclusion: The research is first of its sort from Nepal and mutant genes have been distinctive to Nepalese Inhabitants. Additional evaluation of genetic components is essential to higher perceive genetic affiliation with ocular illnesses and situations. This helps additional in genetic counseling and doubtless gene remedy to forestall blindness from these situations.
Doxorubicin hydrochloride |
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GA4969-10MG | Glentham Life Sciences | 10 mg | EUR 78 |
Doxorubicin hydrochloride |
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GA4969-25MG | Glentham Life Sciences | 25 mg | EUR 98 |
Doxorubicin hydrochloride |
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GA4969-50MG | Glentham Life Sciences | 50 mg | EUR 126 |
Doxorubicin hydrochloride |
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ADC-P-014 | Creative Biolabs | unit | Ask for price |
Doxorubicin Hydrochloride |
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20-abx076623 | Abbexa |
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Doxorubicin hydrochloride |
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TNC00267 | ChemNorm | 20mg | Ask for price |
Doxorubicin hydrochloride USP |
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D005-10MG | TOKU-E | 10 mg | EUR 166 |
Doxorubicin hydrochloride USP |
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D005-25MG | TOKU-E | 25 mg | EUR 301 |
Doxorubicin Hydrochloride (Autophagy inducer) |
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SIH-390-10MG | Stressmarq | 10 mg | EUR 193 |
Description: The substance Doxorubicin Hydrochloride is a autophagy inducer. It is synthetically produced and has a purity of >98%. The pure substance is red solid which is soluble in water (50 mM).. |
Doxorubicin Hydrochloride (Autophagy inducer) |
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SIH-390-50MG | Stressmarq | 50 mg | EUR 529 |
Description: The substance Doxorubicin Hydrochloride is a autophagy inducer. It is synthetically produced and has a purity of >98%. The pure substance is red solid which is soluble in water (50 mM).. |
Erlotinib, Hydrochloride Salt |
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1588-100 | Biovision | EUR 169 |
Erlotinib, Hydrochloride Salt |
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1588-1000 | Biovision | EUR 398 |
Doxorubicin |
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HY-15142A | MedChemExpress | 100mg | EUR 215 |
Doxorubicin |
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D063-100MG | TOKU-E | 100 mg | EUR 1051 |
Doxorubicin |
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D063-25MG | TOKU-E | 25 mg | EUR 322 |
Doxorubicin |
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abx188695-1g | Abbexa | 1 g | EUR 467 |
Doxorubicin |
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ADC-P-013 | Creative Biolabs | unit | Ask for price |
Doxorubicin |
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A3966-10 | ApexBio | 10 mg | EUR 108 |
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas. |
Doxorubicin |
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A3966-100 | ApexBio | 100 mg | EUR 235 |
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas. |
Doxorubicin |
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A3966-25 | ApexBio | 25 mg | EUR 131 |
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas. |
Doxorubicin |
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A3966-5.1 | ApexBio | 10 mM (in 1mL DMSO) | EUR 131 |
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas. |
Doxorubicin |
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A3966-S | ApexBio | Evaluation Sample | EUR 81 |
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas. |
Erlotinib, Hydrochloride Salt, >99% |
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BC026-101 | GenDepot | 1g | EUR 273 |
Erlotinib, Hydrochloride Salt, >99% |
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BC026-102 | GenDepot | 2g | EUR 388 |
Erlotinib, Hydrochloride Salt, >99% |
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BC026-105 | GenDepot | 5g | EUR 570 |
Adriamycin (Doxorubicin) |
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E1KS1208 | EnoGene | 10mg | EUR 409 |
Doxorubicin HCl |
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20-abx184016 | Abbexa |
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Doxorubicin 10mM |
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TG4120 | TopoGen | 0.25ml | EUR 156 |
17-DMAG, Hydrochloride Salt, >98% |
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BC024-001 | GenDepot | 1mg | EUR 178 |
17-DMAG, Hydrochloride Salt, >98% |
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BC024-005 | GenDepot | 5mg | EUR 286 |
17-DMAG, Hydrochloride Salt, >98% |
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BC024-010 | GenDepot | 10mg | EUR 408 |
17-DMAG, Hydrochloride Salt, >98% |
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BC024-025 | GenDepot | 25mg | Ask for price |
17-DMAG, Hydrochloride Salt, >99% |
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BC024-100 | GenDepot | 100mg | Ask for price |
17-DMAG, Hydrochloride Salt, >99% |
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BC024-101 | GenDepot | 1g | Ask for price |
17-DMAG, Hydrochloride Salt, >99% |
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BC024-250 | GenDepot | 250mg | Ask for price |
OSU-03012, Hydrochloride Salt, >98% |
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BC061-005 | GenDepot | 5mg | EUR 313 |
OSU-03012, Hydrochloride Salt, >98% |
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BC061-025 | GenDepot | 25mg | EUR 529 |
Doxorubicin HCl, 100mg |
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R2531-100mg | ACTGene | EUR 1300 |
Doxorubicin HCl, 10mg |
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R2531-10mg | ACTGene | EUR 197 |
Doxorubicin (Adriamycin) HCl |
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A1832-10 | ApexBio | 10 mg | EUR 125 |
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas. |
Doxorubicin (Adriamycin) HCl |
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A1832-25 | ApexBio | 25 mg | EUR 189 |
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas. |
Doxorubicin (Adriamycin) HCl |
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A1832-5.1 | ApexBio | 10 mM (in 1mL DMSO) | EUR 113 |
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas. |
Anti-EGFR-doxorubicin ADC |
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ADC-W-600 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-EGFR monoclonal antibody conjugated via a linker to a doxorubicin |
Anti-CD22-DIBO-doxorubicin ADC |
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ADC-W-339 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-CD22 monoclonal antibody conjugated via a DIBO linker to a doxorubicin |
Anti-TNFRSF8 (cAC10)-DIBO-doxorubicin ADC |
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ADC-W-406 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-TNFRSF8 monoclonal antibody (cAC10) conjugated via a DIBO linker to a doxorubicin |
Anti-ERBB2 (Trastuzumab)-NGM-doxorubicin ADC |
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ADC-W-412 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-ERBB2 monoclonal antibody conjugated via a NGM linker to adoxorubicin |
Anti-EGFR (cetuximab)-SMCC-Doxorubicin ADC |
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ADC-W-504 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-EGFR monoclonal antibody (cetuximab) conjugated via a SMCC linker to Doxorubicin |
Anti-EpCAM (MOC31)-hydrazone-Doxorubicin ADC |
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ADC-W-581 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-EPCAM monoclonal antibody (MOC31) conjugated via a hydrazone linker to Doxorubicin |
Anti-FUT3 (clone cBR96)-hydrazone-doxorubicin ADC |
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ADC-W-423 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-FUT3 monoclonal antibody (clone cBR96) conjugated via a hydrazone linker to adoxorubicin |
Anti-CD70 (clone h1F6)-β-glucuronide-doxorubicin ADC |
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ADC-W-376 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-CD70 monoclonal antibody (clone h1F6) conjugated via a β-glucuronide linker to a doxorubicin |
Bile salt |
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BB0225 | Bio Basic | 25g | EUR 79.58 |
Anti-TNFRSF8 (cCA10)-β-glucuronide-doxorubicin propyloxazoline (DPO) ADC |
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ADC-W-353 | Creative Biolabs | 1mg | Ask for price |
Description: This ADC product is comprised of an anti-TNFRSF8 monoclonal antibody (cCA10) conjugated via a β-glucuronide linker to a doxorubicin propyloxazoline (DPO) |
Human HeLa (Cervix Adenocarcinoma) Cell Nuclear Extract - Doxorubicin Stimulated |
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HCL-2004 | Alpha Diagnostics | 100ug | EUR 225 |
Human HeLa (Cervix Adenocarcinoma) Whole Cell Lysate - Doxorubicin Stimulated |
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HCL-2010 | Alpha Diagnostics | 100ug | EUR 213 |
Sarafloxacin Hydrochloride |
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S003-25G | TOKU-E | 25 g | EUR 168 |
Sarafloxacin Hydrochloride |
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S003-5G | TOKU-E | 5 g | EUR 74 |
Sancycline hydrochloride |
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S076-10MG | TOKU-E | 10 mg | EUR 128 |
Sancycline hydrochloride |
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S076-50MG | TOKU-E | 50 mg | EUR 440 |
Moxifloxacin Hydrochloride |
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M033-100MG | TOKU-E | 100 mg | EUR 129 |
Moxifloxacin Hydrochloride |
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Metformin hydrochloride |
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Naftifine hydrochloride |
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N047-500MG | TOKU-E | 500 mg | EUR 709 |
Naftifine hydrochloride |
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N047-50MG | TOKU-E | 50 mg | EUR 138 |
Oxytetracycline Hydrochloride |
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O004-100G | TOKU-E | 100 g | EUR 171 |
Oxytetracycline Hydrochloride |
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Oxytetracycline Hydrochloride |
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O004-50G | TOKU-E | 50 g | EUR 114 |
Ofloxacin Hydrochloride |
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O039-10G | TOKU-E | 10g | EUR 163 |
Lomefloxacin hydrochloride |
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L005-1G | TOKU-E | 1 g | EUR 74 |
Lomefloxacin hydrochloride |
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L005-5G | TOKU-E | 5 g | EUR 153 |
Methacycline hydrochloride |
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M003-100MG | TOKU-E | 100 mg | EUR 139 |
Methacycline hydrochloride |
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M003-1G | TOKU-E | 1 g | EUR 187 |
Minocycline hydrochloride |
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M008-1G | TOKU-E | 1 g | EUR 347 |
Minocycline hydrochloride |
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M008-500MG | TOKU-E | 500 mg | EUR 200 |
Mitoxantrone hydrochloride |
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M010-50MG | TOKU-E | 50 mg | EUR 129 |
Pirlimycin Hydrochloride |
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P088-25MG | TOKU-E | 25 mg | EUR 670 |
Pirlimycin Hydrochloride |
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P088-5MG | TOKU-E | 5 mg | EUR 213 |
Ofloxacin Hydrochloride |
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O039-1G | TOKU-E | 1g | EUR 63 |
Tasidotin hydrochloride |
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HY-13760 | MedChemExpress | 5mg | EUR 2198 |
Topotecan (Hydrochloride) |
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HY-13768A | MedChemExpress | 10mg | EUR 119 |
Hydroxyfasudil (hydrochloride) |
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HY-13911A | MedChemExpress | 10mM/1mL | EUR 168 |
Sevelamer hydrochloride |
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HY-13995A | MedChemExpress | 100mg | EUR 153 |
Rimonabant (Hydrochloride) |
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HY-14137 | MedChemExpress | 100mg | EUR 463 |
Cinaciguat (hydrochloride) |
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HY-14181A | MedChemExpress | 50mg | EUR 1290 |
Vernakalant (Hydrochloride) |
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HY-14183 | MedChemExpress | 5mg | EUR 366 |
Amiodarone (hydrochloride) |
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HY-14188 | MedChemExpress | 500mg | EUR 108 |
Clorgyline hydrochloride |
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HY-14197A | MedChemExpress | 100mg | EUR 380 |
Siramesine (hydrochloride) |
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HY-14221A | MedChemExpress | 50mg | EUR 1290 |
Fadrozole hydrochloride |
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HY-14247 | MedChemExpress | 100mg | EUR 614 |
Olprinone (Hydrochloride) |
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HY-14254 | MedChemExpress | 50mg | EUR 452 |
Vilazodone (Hydrochloride) |
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HY-14261 | MedChemExpress | 10mg | EUR 119 |
Tebanicline (hydrochloride) |
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HY-14316A | MedChemExpress | 100mg | EUR 1069 |
Idalopirdine Hydrochloride |
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HY-14338A | MedChemExpress | 50mg | EUR 1297 |
Haloperidol (hydrochloride) |
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HY-14538A | MedChemExpress | 500mg | EUR 160 |
Ziprasidone (hydrochloride) |
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HY-14542A | MedChemExpress | 50mg | EUR 277 |
Amisulpride (hydrochloride) |
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HY-14545A | MedChemExpress | 100mg | EUR 160 |
Talnetant (hydrochloride) |
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HY-14552A | MedChemExpress | 10mg | EUR 236 |
Idazoxan (hydrochloride) |
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HY-14561A | MedChemExpress | 50mg | EUR 136 |