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Article

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

American journal of medical genetics - 15 Jul 1992

Tripathi R K, Strunk K M, Giebel L B, Weleber R G, Spritz R A

Abstract excerpt

Type I (tyrosinase-deficient) oculocutaneous albinism (OCA) results from mutations of the gene encoding tyrosinase, the enzyme that catalyzes the first 2 steps of melanin pigment biosynthesis. In type IA (tyrosinase-negative) OCA tyrosinase enzymatic activity is completely absent, and in type IB ("yellow") OCA tyrosinase activity is greatly reduced. Here, we describe 11 novel mutations of the tyrosinase gene in...

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PMID: 1642278
DOI: 10.1002/ajmg.1320430523

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