A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation.
Hayashi
Masahiro
M
Suzuki
Tamio
T
D000243:Adenosine Deaminase / Q000235:genetics*; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D016601:RNA-Binding Proteins; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase