Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy-Reference-Cited by-同舟云学术

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

Published:2005-03 Issue:3 Volume:76 Page:510-516
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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4. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity;Botta;Am J Hum Genet,1998

5. Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy;Botta;Hum Mol Genet,2002

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