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Journal of dermatological science

A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).


PMID 11858948

Abstract

Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper, we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA.

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T3824
Tyrosinase from mushroom, lyophilized powder, ≥1000 unit/mg solid