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

• Principais autores: Escámez María-José (Autor), García Marta (Autor), Sánchez-Jimeno Carolina (Autor), Cuadrado-Corrales Natividad (Autor), Illera Nuria (Autor), Hernández-Martín Ángela (Autor), Trujillo-Tiebas (Autor), Ayuso Carmen (Autor), Del Rio Marcela (Autor)
• Formato: Livro
• Publicado em: BMC, 2010-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...