title: A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
abstract: We detected a nonsense mutation in the tyrosinase gene of two Afghan sibs with classical tyrosinase negative (type IA) oculocutaneous albinism. The mutation, a single base substitution at codon 178, creates an amber termination codon that truncates the 529 amino acid tyrosinase polypeptide at this position. The patients' parents are first cousins, and the patients are therefore homoallelic for this mutation.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: L B
authors.initials: LB
authors.lastname: Giebel
authors.forename: M A
authors.initials: MA
authors.lastname: Musarella
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D000346:Afghanistan / Q000208:ethnology; D016115:Albinism, Oculocutaneous / Q000150:complications / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004314:Down Syndrome / Q000150:complications; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
chemical_list: D014442:Monophenol Monooxygenase