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[Genetic analysis of 21 cases of methylmalonic acidemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2022

Wang Xing, Sun Xiaohong, Hao Shengju, Liu Furong, Zhang Qinghua, Zheng Lei, Zhang Chuan

Abstract excerpt

OBJECTIVE: To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families. METHODS: Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease. RESULTS: In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC...

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Identifiers

PMID: 35446966
DOI: 10.3760/cma.j.cn511374-20201218-00889

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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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