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Article

[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Aug 2015

Wu Mo-Ling, Liu Li, Mao Xiao-Jian, Peng Min-Zhi, Liu Hong-Sheng, Sheng Hui-Ying, Cai Yan-Na, Mei Hui-Fen, Fan Chun, Huang Yong-Lan, Li Xiu-Zhen, Cheng Jing

Abstract excerpt

OBJECTIVE: To study the molecular genetic mechanism and genetic diagnosis of pyruvate dehydrogenase complex deficiency (PHD), and to provide a basis for genetic counseling and prenatal genetic diagnosis of PHD. METHODS: Polymerase chain reaction (PCR) was performed to amplify the 11 exons and exon junction of the PDHA1 gene from a child who was diagnosed with PHD based on clinical characteristics and laboratory...

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Identifiers

PMID: 26287337

Genes

PDHA1

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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