Article
[Human oculocutaneous albinism. From clinical observation to molecular biology].
Bulletin de la Societe de pathologie exotique (1990) - 1 Jan 1993
Aquaron R
Abstract excerpt
Human oculocutaneous albinism (OCA) is a heritable metabolic defect transmitted as an autosomal recessive trait and characterized by a hypopigmentation of skin, hair and eyes. This defect is mainly due to an altered or absence of tyrosinase activity, the key enzyme of eu-and pheo-melanin synthesis. It is a seldom condition in white peoples but more frequent in Africans and in Afro-Americans. Albinos, especially...
Topics
- Albinism, Oculocutaneous
- Base Sequence
- Chromosomes, Human, Pair 11
- Female
- Humans
- Male
- Melanins
- Monophenol Monooxygenase
- Mutation