Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).

doi:10.1111/j.1600-0749.1994.tb00629.x

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Article

Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).

Pigment cell research - 1 Oct 1994

Oetting W S, King R A

Abstract excerpt

Mutations of the tyrosinase gene associated with a partial or complete loss of enzymatic activity are responsible for tyrosinase related oculocutaneous albinism (OCA1). A large number of mutations have been identified and their analysis has provided insight into the biology of tyrosinase and the...

Topics

Albinism, Oculocutaneous
Binding Sites
Copper
Hemocyanins
Humans
Models, Molecular
Monophenol Monooxygenase
Mutation
Sequence Analysis, DNA

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