Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (X...

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Detalles Bibliográficos
Autores Principales: Ortega-Recalde, Oscar-Javier, Ine´s Vergara, Jéssica, Fonseca-Mendoza, Dora Janeth, Ríos, Xiomara, Mosquera, Hernando, Bermúdez, Olga, Medina, Claudia Liliana, Vargas, Clara, Pallares, Argemiro Enrique, Restrepo, Carlos Martín, Laissue, Paul
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Universidad del Rosario 2013
Materias:
Acceso en línea:http://repository.urosario.edu.co/handle/10336/8764