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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1993 Dec;53(6):1173–1179.

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

R K Tripathi 1, S Bundey 1, M A Musarella 1, S Droetto 1, K M Strunk 1, S A Holmes 1, R A Spritz 1
PMCID: PMC1682481  PMID: 7902671

Abstract

Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. Here, we present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. We describe four novel TYR gene mutations and a fifth mutation previously observed in a Caucasian patient.

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Selected References

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