Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type(#)

Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enable...

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Enregistré dans:
Détails bibliographiques
Publié dans:Int J Clin Exp Pathol
Auteurs principaux: Wang, Jun, Li, Erzhen, Wang, Liwen, Wang, Zhilong, Yang, Shenghai, Zhou, Qiao, Chen, Qian
Format: Artigo
Langue:Inglês
Publié: e-Century Publishing Corporation 2015
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4583918/
https://ncbi.nlm.nih.gov/pubmed/26464686
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