title: A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient.
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Ansai
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shigehara
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ito
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Abe
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shimomura
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000293:Adolescent; D005533:Foot Dermatoses / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006229:Hand Dermatoses / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010859:Pigmentation Disorders / Q000151:congenital* / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D000243:Adenosine Deaminase