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[Identification of a novel c.822 G>T mutation of EDA gene in a Chinese family 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

Sun Xueping, Shen Jiandong, Wu Wei, Xie Jiazi, Gao Chao, Qin Lianju, Cui Yugui, Liu Jiayin

Abstract excerpt

OBJECTIVE: To identify potential mutation of ectodysplasin A (EDA) gene in a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia. METHODS: Blood samples were collected from the affected male proband, his family members and 103 unrelated individuals. Following extraction of genomic DNA, coding sequence of the EDA gene was amplified with PCR, and DNA sequencing was performed to detect potential...

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Identifiers

PMID: 23744312
DOI: 10.3760/cma.j.issn.1003-9406.2013.03.004

Genes

EDA

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Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.Semantic proximity Read ↗

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[Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

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