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

BACKGROUND: 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. The identification of a cluster of RDEB pedigrees carrying t...

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Detalles Bibliográficos
Autores principales: Cuadrado-Corrales, Natividad, Sánchez-Jimeno, Carolina, García, Marta, Escámez, María-José, Illera, Nuria, Hernández-Martín, Ángela, Trujillo-Tiebas, María-José, Ayuso, Carmen, Del Rio, Marcela
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957067/
https://www.ncbi.nlm.nih.gov/pubmed/20920254
http://dx.doi.org/10.1186/1471-2350-11-139

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