A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda

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Atıf İçin Kopyala

Yerebakan O., Hu G., Yılmaz E., Çelebi J. T.

CLINICAL AND EXPERIMENTAL DERMATOLOGY, cilt.28, sa.5, ss.542-544, 2003 (SCI-Expanded)

• 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.