TY - JOUR AU - Cuadrado-Corrales, Natividad AU - Sánchez-Jimeno, Carolina AU - García, Marta AU - Escámez, María-José AU - Illera, Nuria AU - Hernández-Martín, Ángela AU - Trujillo-Tiebas, María-José AU - Ayuso, Carmen AU - Del Rio, Marcela PY - 2010 DA - 2010/09/29 TI - A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families JO - BMC Medical Genetics SP - 139 VL - 11 IS - 1 AB - Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-11-139 DO - 10.1186/1471-2350-11-139 ID - Cuadrado-Corrales2010 ER -