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[Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 1 Apr 2007

Zhang Hui, Quan Cheng, Gao Min, Xiao Feng-Li, Lu Wen-Sheng, Shen Yu-Jun, Zhou Fu-Sheng, Yang Sen, Zhang Xue-Jun

Abstract excerpt

OBJECTIVE: To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia METHODS: Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing. RESULTS: Two...

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PMID: 17536268

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