A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda
CLINICAL AND EXPERIMENTAL DERMATOLOGY, vol.28, no.5, pp.542-544, 2003 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 28 Issue: 5
- Publication Date: 2003
- Doi Number: 10.1046/j.1365-2230.2003.01342.x
- Journal Name: CLINICAL AND EXPERIMENTAL DERMATOLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.542-544
- Akdeniz University Affiliated: Yes
Abstract
Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and recently mutations in the ARS ( component B) gene have been identified in families with this disorder. We describe a small family of Turkish origin with Mal de Meleda and identified a novel homozygous mutation, L98P, in ARS ( component B). These findings extend the body of evidence implicating mutations in the ARS ( component B) gene in Mal de Meleda.