title: [New nonsense mutation (p.E250X) in the tyrosinase gene of a patient with oculocutaneous albinism type 1A].
authors.forename: R
authors.initials: R
authors.lastname: Aquaron
authors.forename: S
authors.initials: S
authors.lastname: Hesse
authors.forename: C
authors.initials: C
authors.lastname: Badens
authors.forename: J-J
authors.initials: JJ
authors.lastname: Bonerandi
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D014442:Monophenol Monooxygenase