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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Veröffentlicht in:Int J Clin Exp Pathol
Hauptverfasser: Wang, Jun, Li, Erzhen, Wang, Liwen, Wang, Zhilong, Yang, Shenghai, Zhou, Qiao, Chen, Qian
Format: Artigo
Sprache:Inglês
Veröffentlicht: e-Century Publishing Corporation 2015
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4583918/
https://ncbi.nlm.nih.gov/pubmed/26464686
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