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Title: Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
Authors: Ridley, AJ
Colley, J
Wynford-Thomas, D
Jones, CJ
First Published: 2005
Citation: J HUM GENET, 2005, 50 (3), pp. 151-154
Abstract: We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in CKN1, the gene encoding the CSA protein (MIM 216400). CS3BE displayed a novel missense mutation (A160V) and a previously described nonsense mutation (E13X). Although residing between the second and third WD-40 repeats characteristic of the CSA protein, A160 is completely conserved in all species that possess a CKN1 homologue. We also describe a mutation in a previously uncharacterised xeroderma pigmentosum group C subject (XP8CA) in the XPC gene (MIM 278720). XP8CA was homozygous for a 2 bp TG deletion in codon 547 resulting in premature termination at codon 572. Immunoblotting of XP8CA extracts confirmed the absence of full-length XPC protein that was present in unaffected cell lines.
DOI Link: 10.1007/s10038-004-0228-2
ISSN: 1434-5161
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Cancer Studies and Molecular Medicine

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