Article
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
American journal of human genetics - 1 Jun 1995
Spritz R A, Fukai K, Holmes S A, Luande J
Abstract excerpt
Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Base Sequence
- Carrier Proteins
- Exons
- Frameshift Mutation
- Humans
- Membrane Proteins
- Membrane Transport Proteins
- Molecular Sequence Data
- Mutation
- Nigeria
- Point Mutation
- Sequence Deletion
- Tanzania