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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Detalhes bibliográficos
Publicado no:Int J Clin Exp Pathol
Main Authors: Wang, Jun, Li, Erzhen, Wang, Liwen, Wang, Zhilong, Yang, Shenghai, Zhou, Qiao, Chen, Qian
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2015
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4583918/
https://ncbi.nlm.nih.gov/pubmed/26464686
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