title: Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.
authors.affiliation: Department of Dermatology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, Jiangsu, 214023, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Gu
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, 200443, Shanghai, China.
authors.forename: A K
authors.initials: AK
authors.lastname: Bhatta
authors.affiliation: Department of Dermatology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, Jiangsu, 214023, China.
authors.forename: X
authors.initials: X
authors.lastname: Du
authors.affiliation: Department of Dermatology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, Jiangsu, 214023, China.
authors.forename: M
authors.initials: M
authors.lastname: Shao
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, 200443, Shanghai, China.
authors.forename: U
authors.initials: U
authors.lastname: Keyal
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, 200443, Shanghai, China.
authors.forename: G
authors.initials: G
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Affiliated Wuxi Children's Hospital, Nanjing Medical University, Wuxi, Jiangsu, 214023, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Hua
mesh_terms: D000293:Adolescent; D044466:Asian People; D002648:Child; D003057:Cockayne Syndrome / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C095472:ERCC8 protein, human; D014157:Transcription Factors; D045643:DNA Repair Enzymes