Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.

Source:http://linkedlifedata.com/resource/pubmed/id/11416205

Proc. Natl. Acad. Sci. U.S.A. 2001 Jun 19 98 13 7218-23

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PMID
11416205