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- Title
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.
- Authors
Celebi, J T; Tanzi, E L; Yao, Y J; Michael, E J; Peacocke, M
- Abstract
Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.
- Publication
The Journal of investigative dermatology, 1999, Vol 113, Issue 5, p848
- ISSN
0022-202X
- Publication type
Journal Article
- DOI
10.1046/j.1523-1747.1999.00762.x