A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A-Reference-Cited by-同舟云学术

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Published:2015-01-22 Issue:4 Volume:52 Page:269-274
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Corbett Mark A,Dudding-Byth Tracy,Crock Patricia A,Botta Elena,Christie Louise M,Nardo Tiziana,Caligiuri Giuseppina,Hobson Lynne,Boyle Jackie,Mansour Albert,Friend Kathryn L,Crawford Jo,Jackson Graeme,Vandeleur Lucianne,Hackett Anna,Tarpey Patrick,Stratton Michael R,Turner Gillian,Gécz Jozef,Field Michael

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference20 articles.

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3. TFIIH: when transcription met DNA repair;Compe;Nat Rev Mol Cell Biol,2012

4. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy;Nakabayashi;Am J Hum Genet,2005

5. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype–phenotype relationships;Botta;Hum Mutat,2007

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