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The Molecular Basis of Type I (Tyrosinase-Deficient) Human Oculocutaneous Albinism

โœ Scribed by Giebel, Lutz B. ;Spritz, Richard A.

Book ID
111259432
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
610 KB
Volume
3
Category
Article
ISSN
0893-5785

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## Communicated by David Vale Type I (tyrosinase related) oculocutaneous albinism (OCA) results from mutations of the tyrosinase gene on chromosome 1 l q that lead to reduced or absent melanin pigment synthesis. The phenotype of Type I OCA is broad, ranging from a total lack to only a moderate red

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Q p e 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 ("