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[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency].

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

Liu Ning, Feng Yin, Jiang Miao, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To detect genetic variants among 7 pedigrees affected with ornithine transcarbamylase deficiency (OTCD) and provide prenatal diagnosis for them. METHODS: The pedigrees were subjected to targeted next-generation sequencing (NGS) with a gene panel for inherited metabolic diseases. Suspected pathological variants were confirmed by Sanger sequencing of the probands and their family members. Prenatal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32034732
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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