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Article

Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism.

Pigment cell research - 1 Nov 1992

Oetting W S, King R A

Abstract excerpt

Mutations of the tyrosinase gene are responsible for type I (tyrosinase-related) oculocutaneous albinism (OCA), an autosomal recessive genetic syndrome with a broad phenotypic spectrum. Mutant tyrosinase alleles can be associated with no melanin synthesis (I-A, tyrosinase-negative OCA), small to moderate amounts of melanin (I-B, yellow OCA) or unusual pigment patterns (I-TS, temperature-sensitive OCA). A total of...

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PMID: 1292009
DOI: 10.1111/j.1600-0749.1992.tb00549.x

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