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

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized 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 (...

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Detalhes bibliográficos
Main Authors: Ortega-Recalde, Oscar, Vergara, Jéssica Inés, Fonseca, Dora Janeth, Ríos, Xiomara, Mosquera, Hernando, Bermúdez, Olga María, Medina, Claudia Liliana, Vargas, Clara Inés, Pallares, Argemiro Enrique, Restrepo, Carlos Martín, Laissue, Paul
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3670841/
https://ncbi.nlm.nih.gov/pubmed/23755135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0064692
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