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[Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2011

Mo Wei-qian, Liu Li, Chen Yao-yong, Cheng Jing, Li Xiu-zhen, Zhou Zhi-hong, Mao Xiao-jian, Zhang Wen

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of three children with ornithine carbamoyltransferase deficiency(OTCD), and to provide a practical method for gene diagnosis and genetic counseling of the disease. METHODS: All exons of the ornithine carbamoyltransferase (OTC) gene were screened by polymerase chain reaction-DNA direct sequencing in the three OTCD patients. RESULTS: One patient firstly...

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Identifiers

PMID: 21644234
DOI: 10.3760/cma.j.issn.1003-9406.2011.03.020

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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