title: Identification of a novel mutation confirms phenotypic variability of mutant XPG truncations.
authors.affiliation: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.
authors.forename: Yongjia
authors.initials: Y
authors.lastname: Yang
authors.affiliation: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Yao
authors.affiliation: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.|The Department of dermatology, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.
authors.forename: Yongqi
authors.initials: Y
authors.lastname: Luo
authors.affiliation: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.
authors.forename: Liu
authors.initials: L
authors.lastname: Zhao
authors.affiliation: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.|The Department of dermatology, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
authors.affiliation: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Tu
authors.affiliation: The Lab. of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, The Paediatric Academy of University of South China, Changsha, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhao
mesh_terms: D000073537:Biological Variation, Population / Q000235:genetics*; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics*; D004720:Endonucleases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008107:Liver Diseases / Q000209:etiology / Q000473:pathology*; D008111:Liver Function Tests; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D011379:Prognosis; D012494:Sampling Studies; D014157:Transcription Factors / Q000235:genetics*; D014983:Xeroderma Pigmentosum / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D000099250:DNA Excision Repair Protein ERCC-5
chemical_list: D004268:DNA-Binding Proteins; D004720:Endonucleases; D009687:Nuclear Proteins; D014157:Transcription Factors; D000099250:DNA Excision Repair Protein ERCC-5