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Article

[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].

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

Wang Hui, Xie Jiansheng, Wu Weiqing, Xu Zhiyong, Luo Fuwei, Geng Qian

Abstract excerpt

OBJECTIVE: To perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis. METHODS: Mutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing. RESULTS: A novel c.956 A>T resulting in substitution of Aspartic acid 319 for Valine (p.Asp319Val) has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23744324
DOI: 10.3760/cma.j.issn.1003-9406.2013.03.016

Genes

COMP

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[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].PMID 23744324Read ↗

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