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[Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia].

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

Li Mingyang, Yuan He, Li Jiyao

Abstract excerpt

OBJECTIVE: To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED). METHODS: Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing. RESULTS: A c.467G> A mutation (R156H)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23744313
DOI: 10.3760/cma.j.issn.1003-9406.2013.03.005

Genes

EDA

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