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 (...

詳細記述

保存先:
書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2013
主題:
Research Article
オンライン･アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料