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[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2018

Lin Yiming, Han Mingya, Zheng Zhenzhu, Lin Weihua, Yu Ke, Fu Qingliu

Abstract excerpt

OBJECTIVE To detect potential mutations of GCDH gene in five patients with glutaric acidemia type I (GA-I). METHODS Genomic DNA was extracted from peripheral blood samples from the patients. The 11 exons and their flanking sequences of the GCDH gene were amplified with PCR and subjected to direct sequencing. RESULTS Four mutations of the GCDH gene were identified among the patients, which included c.532G>A...

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Source

Identifiers

PMID: 29419857
DOI: 10.3760/cma.j.issn.1003-9406.2018.01.008

Genes

GCDH

Variants

Provenance

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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