Article
Mutations of the tyrosinase gene in oculocutaneous albinism.
Pigment cell research - 1 Nov 1992
Shibahara S
Abstract excerpt
Since our first report showing that the phenotype of tyrosinase-negative or type IA oculocutaneous albinism (OCA) is a consequence of a mutation in the tyrosinase gene (Tomita et al., Biochem. Biophys. Res. Commun., 164:990-996, 1989), a number of mutations were found in the tyrosinase gene of OCA patients. However, to establish the molecular basis of OCA in each patient, we must carry out several important...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Chromosome Mapping
- DNA
- Humans
- Molecular Sequence Data
- Monophenol Monooxygenase
- Mutation