Molecular genetics of oculocutaneous albinism.

doi:10.1093/hmg/3.suppl_1.1469

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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-defici...

Topics

Albinism, Oculocutaneous
Chromosome Mapping
Humans
Monophenol Monooxygenase
Mutation

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