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Article

[Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 1 Aug 2003

Wang Ying, Zhao Hongshan, Zhang Xiaoxia, Feng Hailan

Abstract excerpt

OBJECTIVE: To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia (HED) nuclear families. METHODS: Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. Genomic DNA was extracted. Polymerase chain reaction, direct sequencing and restriction enzyme reaction were performed to identify the mutations. RESULTS: Different missense mutation in ED1 gene...

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PMID: 12947561

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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