Xeroderma pigmentosum
Definition:
References:
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[1]. A F Nichols, et al. Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. J Biol Chem. 1996 Oct 4;271(40):24317-20. [Content Brief]
[2]. A M Sijbers, et al. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell. 1996 Sep 6;86(5):811-22. [Content Brief]
[3]. C Masutani, et al. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature. 1999 Jun 17;399(6737):700-4. [Content Brief]
[4]. G D Frederick, et al. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum Mol Genet. 1994 Oct;3(10):1783-8. [Content Brief]
[5]. G Weeda, et al. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell. 1990 Aug 24;62(4):777-91. [Content Brief]
[6]. James E Cleaver, et al. Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity. Nat Rev Genet. 2009 Nov;10(11):756-68. [Content Brief]
[7]. K Tanaka, et al. Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. Nature. 1990 Nov 1;348(6296):73-6. [Content Brief]
[8]. L Li, et al. Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet. 1993 Dec;5(4):413-7. [Content Brief]
[9]. T Nouspikel, et al. Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. Hum Mol Genet. 1994 Jun;3(6):963-7. [Content Brief]
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