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    Am J Hum Genet. 1991 Feb;48(2):318-24.

    Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

    Spritz RA, Strunk KM, Hsieh CL, Sekhon GS, Francke U.

    Department of Medical Genetics, University of Wisconsin-Madison.

    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.

    PMID: 1899321 [PubMed - indexed for MEDLINE]

    PMCID: 1683030

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