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[Analysis of a pedigree affected with propionic acidemia by trio whole exome sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020

Yang Yan, Liu Yanqiu, Chen Jia, Luo Haiyan

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic basis for a pedigree affected with propionic acidemia. METHODS: Trio whole exome sequencing (WES) was used to screen potential variants in the proband and his parents. Sanger sequencing was carried out for the elder sister of the proband, and prenatal diagnosis was carried out at 18th gestational week upon the next pregnancy of his mother. RESULTS:...

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Identifiers

PMID: 32619257
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.012

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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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