Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia

OBJECTIVE: Methylmalonic acidemia complicated with homocysteinemia, cblC type, is the most common inborn error of cobalamin metabolism. The gene MMACHC (OMIM 277400) is located on chromosome 1p34.1 with four coding exons and a 5th non-coding exon. It encodes for a protein with 282 amino acid residue...

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Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 47(2009), 3 vom: 03. März, Seite 189-93
Auteur principal:	Wang, Fei (Auteur)
Autres auteurs:	Han, Lian-shu, Hu, Yu-hui, Yang, Yan-ling, Ye, Jun, Qiu, Wen-juan, Zhang, Ya-fen, Gao, Xiao-lan, Wang, Yu, Gu, Xue-fan
Format:	Article
Langue:	Chinese
Publié:	2009
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	English Abstract Journal Article Research Support, Non-U.S. Gov't Methylmalonic Acid 8LL8S712J7 DNA 9007-49-2 Cysteine K848JZ4886