title: A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
abstract: Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper, we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA.
authors.affiliation: Department of Dermatology, Akita University School of Medicine, 1-1-1 Hondo, 010-8543, Akita, Japan.
authors.forename: Eriko
authors.initials: E
authors.lastname: Nakamura
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Miyamura
authors.forename: Jun
authors.initials: J
authors.lastname: Matsunaga
authors.forename: Yoko
authors.initials: Y
authors.lastname: Kano
authors.forename: Miwako
authors.initials: M
authors.lastname: Dakeishi-Hara
authors.forename: Muneo
authors.initials: M
authors.lastname: Tanita
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kono
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Tomita
mesh_terms: D016115:Albinism, Oculocutaneous / Q000201:enzymology* / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D014442:Monophenol Monooxygenase / Q000172:deficiency* / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D004247:DNA; D014442:Monophenol Monooxygenase