| http://purl.uniprot.org/citations/15744458 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15744458 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15744458 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10038-004-0228-2"xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10038-004-0228-2"xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/author | "Ridley A.J."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/author | "Ridley A.J."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/author | "Jones C.J."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/author | "Jones C.J."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/author | "Colley J."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/author | "Colley J."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/author | "Wynford-Thomas D."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/author | "Wynford-Thomas D."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/name | "J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/name | "J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/pages | "151-154"xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/pages | "151-154"xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/title | "Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/title | "Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects."xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/volume | "50"xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://purl.uniprot.org/core/volume | "50"xsd:string |
| http://purl.uniprot.org/citations/15744458 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15744458 |
| http://purl.uniprot.org/citations/15744458 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15744458 |