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Article

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

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Mar 2009

Wang Fei, 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

Abstract excerpt

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 residues. So far, more than 40 mutations have been detected, in which 271dupA (R91KfsX14) is the hot spot of MMACHC gene....

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Identifiers

PMID: 19573432

Genes

MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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