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http://purl.uniprot.org/citations/14661080http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/14661080http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/14661080http://www.w3.org/2000/01/rdf-schema#comment"We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.org/dc/terms/identifier"doi:10.1007/s10038-003-0107-2"xsd:string
http://purl.uniprot.org/citations/14661080http://purl.org/dc/terms/identifier"doi:10.1007/s10038-003-0107-2"xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/author"Cao H."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/author"Cao H."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/author"Carter M."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/author"Carter M."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/author"Hegele R.A."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/author"Hegele R.A."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/author"Williams C."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/author"Williams C."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/date"2004"xsd:gYear
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/date"2004"xsd:gYear
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/name"J. Hum. Genet."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/name"J. Hum. Genet."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/pages"61-63"xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/pages"61-63"xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/title"CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/title"CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism."xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/volume"49"xsd:string
http://purl.uniprot.org/citations/14661080http://purl.uniprot.org/core/volume"49"xsd:string
http://purl.uniprot.org/citations/14661080http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/14661080
http://purl.uniprot.org/citations/14661080http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/14661080