title: CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.
abstract: 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.
authors.affiliation: Robarts Research Institute, London, Ontario, N6A 5K8, Canada.
authors.forename: Henian
authors.initials: H
authors.lastname: Cao
authors.affiliation: Robarts Research Institute, London, Ontario, N6A 5K8, Canada.
authors.forename: Christina
authors.initials: C
authors.lastname: Williams
authors.affiliation: Robarts Research Institute, London, Ontario, N6A 5K8, Canada.
authors.forename: Monica
authors.initials: M
authors.lastname: Carter
authors.affiliation: Robarts Research Institute, London, Ontario, N6A 5K8, Canada. hegele@robarts.ca.|Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, N6A 5K8, Canada. hegele@robarts.ca.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D016022:Case-Control Studies; D002478:Cells, Cultured; D002648:Child; D003057:Cockayne Syndrome / Q000235:genetics*; D017931:DNA Primers; D045643:DNA Repair Enzymes; D005260:Female; D005787:Gene Frequency; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014157:Transcription Factors
chemical_list: D017931:DNA Primers; C095472:ERCC8 protein, human; D011506:Proteins; D014157:Transcription Factors; D045643:DNA Repair Enzymes