Article
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
American journal of medical genetics - 15 Jul 1992
Tripathi R K, Strunk K M, Giebel L B, Weleber R G, Spritz R A
Abstract excerpt
Type I (tyrosinase-deficient) oculocutaneous albinism (OCA) results from mutations of the gene encoding tyrosinase, the enzyme that catalyzes the first 2 steps of melanin pigment biosynthesis. In type IA (tyrosinase-negative) OCA tyrosinase enzymatic activity is completely absent, and in type IB...
Topics
- Albinism, Oculocutaneous
- Alleles
- Amino Acid Sequence
- Base Sequence
- Female
- Genes, Recessive
- Hair
- Humans
- Male
- Molecular Sequence Data
- Monophenol Monooxygenase
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction