Article
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.
Human genetics - 1 Nov 1992
Oetting W S, King R A
Abstract excerpt
Type I oculocutaneous albinism (OCA) is caused by the reduction in or absence of activity of tyrosinase in melanocytes in skin, hair, and the eyes, the result of mutations of the tyrosinase gene. To date, a total of 22 unique mutations in the coding region of tyrosinase have been described in the literature. In this report we present 5 additional mutations of the tyrosinase gene associated with type I-A OCA in...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Animals
- Base Sequence
- Binding Sites
- Cells, Cultured
- Copper
- Dihydroxyphenylalanine
- Humans
- Mice
- Molecular Sequence Data
- Monophenol Monooxygenase