Article
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
Nature genetics - 1 Jan 1995
Fukai K, Holmes S A, Lucchese N J, Siu V M, Weleber R G, Schnur R E, Spritz R A
Abstract excerpt
Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation of the skin and hair is normal, but is usually slightly lighter than in unaffected sibs. We analysed...
Topics
- Albinism, Ocular
- Alleles
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- DNA
- DNA Primers
- Female
- Genes, Recessive
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Monophenol Monooxygenase
- Point Mutation
- Polymorphism, Genetic