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Article

[Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2013

Meng Lu-lu, Jiang Tao, Qin Ling, Ma Ding-yuan, Chen Yu-lin, Han Shu-ping, Yu Zhang-bin, Guo Xi-ron, Hu Ping, Xu Zheng-feng

Abstract excerpt

OBJECTIVE: To detect potential mutations of OTC gene in a male infant affected with ornithine transcarbamylase deficiency. METHODS: Genomic DNA were isolated from peripheral blood samples of family members and 100 healthy individuals. Potential mutations of the 10 exons of OTC gene were screened with PCR and Sanger sequencing. RESULTS: A homozygous missense mutation c.917G>C in exon 9, which results in p.R306T,...

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Source

Identifiers

PMID: 23568734
DOI: 10.3760/cma.j.issn.1003-9406.2013.04.016

Genes

OTC

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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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