ISSN:
1546-1718
Source:
Nature Archives 1869 - 2009
Topics:
Biology
,
Medicine
Notes:
[Auszug] Here we present genetic evidence that different missense mutations of the gene GJB6, encoding connexin-30 (CX-30), cause hidrotic ectodermal dysplasia (HED, MIM 129500; also known as Clouston syndrome). This disease is an autosomal dominant skin disorder characterized by palmoplantar ...
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1038/79851
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