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[Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2012

Wu Qing-hua, Shi Hui-rong, Liu Bao-cui, Zhao Zhen-hua, Jiang Miao, Lu Ning, Kong Xiang-dong

Abstract excerpt

OBJECTIVE: To identify potential mutations of ED1 gene in six pedigrees with hypohidrotic ectodermal dysplasia (HED), and to provide genetic counseling and prenatal diagnosis. METHODS: Eight coding exons of ED1 gene of patients with clinically diagnosed HED and their relatives were amplified by polymerase chain reaction (PCR). The products were further analyzed by direct sequencing. RESULTS: Various mutations of...

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Identifiers

PMID: 22875504
DOI: 10.3760/cma.j.issn.1003-9406.2012.04.015

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