Article
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.
Human molecular genetics - 1 Jul 1998
Smith F J, Jonkman M F, van Goor H, Coleman C M, Covello S P, Uitto J, McLean W H
Abstract excerpt
Type I and type II keratins form the heteropolymeric intermediate filament cytoskeleton, which is the main stress-bearing structure within epithelial cells. Pachyonychia congenita (PC) is a group of autosomal dominant disorders whose most prominent phenotype is hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia. It has been shown previously that mutations in either K16 or K6a, which...
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