Article
Molecular genetics of oculocutaneous albinism.
Seminars in dermatology - 1 Sept 1993
Spritz R A
Abstract excerpt
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from deficient enzymatic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway. Type II (tyrosinase-positive) OCA results from abnormalities of the "P" polypeptide. Recent application of molecular...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Base Sequence
- Humans
- Molecular Sequence Data
- Mutation
- Tyrosine