title: A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria.
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Q-Y
authors.initials: QY
authors.lastname: Wu
authors.forename: W-W
authors.initials: WW
authors.lastname: Li
authors.forename: N
authors.initials: N
authors.lastname: Li
authors.forename: T-F
authors.initials: TF
authors.lastname: Li
authors.forename: C
authors.initials: C
authors.lastname: Zhang
authors.forename: T
authors.initials: T
authors.lastname: Ni
authors.forename: Y-X
authors.initials: YX
authors.lastname: Cui
authors.forename: X-J
authors.initials: XJ
authors.lastname: Li
authors.forename: X-Y
authors.initials: XY
authors.lastname: Xia
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D002648:Child; D002681:China; D018389:Codon, Nonsense; D006801:Humans; D010859:Pigmentation Disorders / Q000151:congenital* / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase