A recurrent mutation in the ARS (Component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: Evidence of a founder effect

---

Hu G., Yıldırım M., Baysal V., Yerebakan O., Yılmaz E., Serhat Inaloz H., ...Daha Fazla

JOURNAL OF INVESTIGATIVE DERMATOLOGY, cilt.120, sa.6, ss.967-969, 2003 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 120 Sayı: 6
• Basım Tarihi: 2003
• Doi Numarası: 10.1046/j.1523-1747.2003.12248.x
• Dergi Adı: JOURNAL OF INVESTIGATIVE DERMATOLOGY
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.967-969
• Anahtar Kelimeler: ARS (component B), founder, mal de Meleda, mutation, SLURP-1, DE-MELEDA, DISEASE
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• Akdeniz Üniversitesi Adresli: Evet

Özet

Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (component) B gene have been identified in families with this disease. We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect.