A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

• Asıl Yazarlar: Escámez María-José (Yazar), García Marta (Yazar), Sánchez-Jimeno Carolina (Yazar), Cuadrado-Corrales Natividad (Yazar), Illera Nuria (Yazar), Hernández-Martín Ángela (Yazar), Trujillo-Tiebas (Yazar), Ayuso Carmen (Yazar), Del Rio Marcela (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2010-09-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the <it>COL7A1 </it>gene and characterized by blistering of the skin following a minimal friction or mec...