
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
Keywords: تعمیر مجدد نوکلئوتیدی; DNA damage; neurodegeneration; nucleotide excision repair; photosensitivity; transcription; ubiquitylation; CS; Cockayne syndrome; CSA; Cockayne syndrome group A gene (CSA) or protein (CSA); CS-A; Cockayne syndrome complementation group A cell line or pat