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

• Main Authors: Escámez María-José (Author), García Marta (Author), Sánchez-Jimeno Carolina (Author), Cuadrado-Corrales Natividad (Author), Illera Nuria (Author), Hernández-Martín Ángela (Author), Trujillo-Tiebas (Author), Ayuso Carmen (Author), Del Rio Marcela (Author)
• Format: Book
• Published: BMC, 2010-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...