A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda
CLINICAL AND EXPERIMENTAL DERMATOLOGY, cilt.28, sa.5, ss.542-544, 2003 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 28 Sayı: 5
- Basım Tarihi: 2003
- Doi Numarası: 10.1046/j.1365-2230.2003.01342.x
- Dergi Adı: CLINICAL AND EXPERIMENTAL DERMATOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.542-544
- Akdeniz Üniversitesi Adresli: Evet
Özet
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.