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Article

Molecular genetics of oculocutaneous albinism.

Human molecular genetics - 1 Jan 1994

Spritz R A

Abstract excerpt

Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from deficient catalytic activity of tyrosinase, which catalyzes at least three steps in the melanin...

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PMID: 7849740
DOI: 10.1093/hmg/3.suppl_1.1469

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Source receipt: pubmed, retrieved 7 Sept 2026.

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