Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/22503
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dc.contributor.authorRidley, AJ-
dc.contributor.authorColley, J-
dc.contributor.authorWynford-Thomas, D-
dc.contributor.authorJones, CJ-
dc.date.accessioned2012-10-24T09:11:33Z-
dc.date.available2012-10-24T09:11:33Z-
dc.date.issued2005-
dc.identifier.citationJ HUM GENET, 2005, 50 (3), pp. 151-154-
dc.identifier.issn1434-5161-
dc.identifier.urihttp://hdl.handle.net/2381/22503-
dc.description.abstractWe 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.-
dc.formatmetadata-
dc.language.isoeng-
dc.sourcePubMed-
dc.source.urihttp://www.ncbi.nlm.nih.gov/pubmed/-
dc.subjectCell Line-
dc.subjectCockayne Syndrome-
dc.subjectDNA Primers-
dc.subjectDNA Repair Enzymes-
dc.subjectDNA-Binding Proteins-
dc.subjectHumans-
dc.subjectImmunoblotting-
dc.subjectMutation-
dc.subjectProteins-
dc.subjectSequence Analysis-
dc.subjectDNA-
dc.subjectTranscription Factors-
dc.subjectXeroderma Pigmentosum-
dc.titleCharacterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.-
dc.typeJournal Article-
dc.identifier.doi10.1007/s10038-004-0228-2-
dc.description.irispid72761-
Appears in Collections:Published Articles, Dept. of Cancer Studies and Molecular Medicine

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