CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.
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.
Cao
Henian
H
Robarts Research Institute, London, Ontario, N6A 5K8, Canada.
Williams
Christina
C
Robarts Research Institute, London, Ontario, N6A 5K8, Canada.
Carter
Monica
M
Robarts Research Institute, London, Ontario, N6A 5K8, Canada.
Hegele
Robert A
RA
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.
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
D017931:DNA Primers; C095472:ERCC8 protein, human; D011506:Proteins; D014157:Transcription Factors; D045643:DNA Repair Enzymes