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  • Title: Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
    Author: Spritz RA, Strunk KM, Hsieh CL, Sekhon GS, Francke U.
    Journal: Am J Hum Genet; 1991 Feb; 48(2):318-24. PubMed ID: 1899321.
    Abstract:
    We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide. The proband is homozygous for the substitution, suggesting that this mutation may be frequently associated with tyrosinase-negative oculocutaneous albinism in blacks.
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