title: A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria.
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, People's Republic of China. xinyixia78@gmail.com.
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Li
authors.forename: Qiu-Yue
authors.initials: QY
authors.lastname: Wu
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.forename: De-Quan
authors.initials: DQ
authors.lastname: Deng
authors.forename: Ru-Song
authors.initials: RS
authors.lastname: Zhang
authors.forename: Ying-Xia
authors.initials: YX
authors.lastname: Cui
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Li
authors.forename: Xin-Yi
authors.initials: XY
authors.lastname: Xia
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D010859:Pigmentation Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D017384:Sequence Deletion; D012867:Skin / Q000473:pathology; D055815:Young Adult
chemical_list: D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase