Article
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
The British journal of dermatology - 1 Jul 2010
Escámez M J, García M, Cuadrado-Corrales N, Llames S G, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas M J, Vicario J L, Santiago J L, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano J L, Meana A, Meneguzzi G, Zambruno G, Del Rio M
Abstract excerpt
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in COL7A1. The clinical manifestations are highly variable from nail dystrophy to life-threatening blistering, making early molecular diagnosis and prognosis of utmost importance for the affected families. Mutation identification is mandatory for prenatal testing. OBJECTIVES: To conduct the first mutational analysis of...
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