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[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2009

Tang Hui, Hao Hu, Tang Shao-hui, Chen Xuan, Liu Fang, Cha Qing-bing, Li Yue-qin, Li Hong-jian, Sun Liang, Yu Ming, Xiao Xin, Zhou Tian-hong

Abstract excerpt

OBJECTIVE: To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria. METHODS: The MMACHC gene mutation was detected using polymerase chain reaction (PCR) and DNA sequencing. The MMACHC gene of 50 healthy people was also sequenced as control. RESULTS: A new mutation of 146_154 del CCTTCCTGG was found in the...

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Source

Identifiers

PMID: 19199254
DOI: 10.3760/cma.j.issn.1003-9406.2009.01.014

Genes

MMACHC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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