title: Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families.
authors.affiliation: Department of Dermatology, Nagoya University, Graduate School of Medicine, Nagoya, Japan.
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kono
authors.forename: Mutsumi
authors.initials: M
authors.lastname: Suganuma
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
authors.forename: Yasutomo
authors.initials: Y
authors.lastname: Ito
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Ujiie
authors.forename: Kenichi
authors.initials: K
authors.lastname: Morimoto
mesh_terms: D000243:Adenosine Deaminase / Q000737:chemistry / Q000235:genetics*; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital* / Q000235:genetics; D017354:Point Mutation; D017434:Protein Structure, Tertiary / Q000235:genetics; D016601:RNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*
chemical_list: D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase