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Article

[Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2015

Sun Yun, Jiang Tao, Ma Dingyuan, Yang Guijiang, Yang Bing, Wang Yanyun, Xu Zhengfeng

Abstract excerpt

OBJECTIVE: To detect the pathogenic mutation in a patient with methylmalonic acidemia using IonTorrent Personal Genome Machine (PGM) and assess the feasibility of such technology for analyzing complex monogenic diseases. METHODS: Peripheral blood sample was collected from the patient. Genomic DNA...

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Identifiers

PMID: 25636100
DOI: 10.3760/cma.j.issn.1003-9406.2015.01.012

Genes

MMAA

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25636100-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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