CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg200410.pdf
Reference6 articles.
1. Cleaver JE, Thompson LH, Richardson AS, States JC (1999) A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat 14:9–22
2. Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC (1995) The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 82:555–564
3. Lehmann AR (1987) Cockayne’s syndrome and trichothiodystrophy: defective repair without cancer. Cancer Rev 7:82–103
4. Nance MA, Berry SA (1992) Cockayne syndrome: review of 140 cases. Am J Med Genet 42:68–84
5. Ren Y, Saijo M, Nakatsu Y, Nakai H, Yamaizumi M, Tanaka K (2003) Three novel mutations responsible for Cockayne syndrome group A. Genes Genet Syst 78:93–102
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