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

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 th...

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Autors principals: Spritz, R A, Strunk, K M, Hsieh, C L, Sekhon, G S, Francke, U
Format: Artigo
Idioma:Inglês
Publicat: 1991
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683030/
https://ncbi.nlm.nih.gov/pubmed/1899321
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