Article
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
The Journal of investigative dermatology - 1 Dec 2001
Terrinoni A, Smith F J, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh I M, Munro C S, Melino G, McLean W H
Abstract excerpt
Thirteen patients with pachyonychia congenita types 1 and 2 were studied, two of which had a family history of pachyonychia and 11 of which were sporadic cases. Heterozygous mis-sense or small in-frame insertion/deletion mutations were detected in the genes encoding keratins K6a, K16, and K17 in all cases. Three novel mutations, F174V, E472K, and L469R were found in the K6a gene. Two novel mutations, M121T and...
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