Article
Tyrosinase gene mutations causing oculocutaneous albinisms.
The Journal of investigative dermatology - 1 Feb 1993
Tomita Y
Abstract excerpt
Since the first report of a mutation in the tyrosinase gene that causes tyrosinase-negative oculocutaneous albinism (OCA), more than 25 alleles with a different mutation in patients with three types of OCA, i.e., tyrosinase-negative OCA (type IA), yellow-mutant OCA (type IB), and temperature sensitive OCA (type ITS), have been found in several laboratories. The mutated alleles are presently classified into three...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Base Sequence
- Humans
- Molecular Sequence Data
- Monophenol Monooxygenase
- Mutation