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Article

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

Journal of human genetics - 1 Sept 2010

Liu Mei-Ying, Yang Yan-Ling, Chang Ying-Chen, Chiang Szu-Hui, Lin Shuan-Pei, Han Lian-Shu, Qi Yu, Hsiao Kwang-Jen, Liu Tze-Tze

Abstract excerpt

The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was sequenced in 79 unrelated Chinese patients. Sequence analysis identified 98.1% of disease alleles and found that all...

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Source

Identifiers

PMID: 20631720
DOI: 10.1038/jhg.2010.81

Genes

MMACHC

Variants

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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