Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.

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 (...

Full description

Bibliographic Details
Main Authors: Oscar Ortega-Recalde, Jéssica Inés Vergara, Dora Janeth Fonseca, Xiomara Ríos, Hernando Mosquera, Olga María Bermúdez, Claudia Liliana Medina, Clara Inés Vargas, Argemiro Enrique Pallares, Carlos Martín Restrepo, Paul Laissue
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3670841?pdf=render

Internet

http://europepmc.org/articles/PMC3670841?pdf=render

Similar Items