Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
case_report · Level V
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- Record sourced from PubMed, PMID 1899321.
- Also identified by PMC identifier 1683030.
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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.
Medical subject headings
- Albinism, Oculocutaneous
- Homozygote
- Monophenol Monooxygenase