Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

We have identified C7orf11, which localizes to the nucleus and is expressed in fetal hair follicles, as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to chromosome 7p14, and the disease locus has been designated “TTDN1” (TTDnonphotosensitive 1). Mutations were...

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主要な著者: Nakabayashi, Kazuhiko, Amann, Daniela, Ren, Yan, Saarialho-Kere, Ulpu, Avidan, Nili, Gentles, Simone, MacDonald, Jeffrey R., Puffenberger, Erik G., Christiano, Angela M., Martinez-Mir, Amalia, Salas-Alanis, Julio C., Rizzo, Renata, Vamos, Esther, Raams, Anja, Les, Clifford, Seboun, Eric, Jaspers, Nicolaas G. J., Beckmann, Jacques S., Jackson, Charles E., Scherer, Stephen W.
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2005
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オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1196401/
https://ncbi.nlm.nih.gov/pubmed/15645389
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