Article
Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.
Current eye research - 1 Jul 1996
Mashima Y, Shiono T, Tamai M, Inana G
Abstract excerpt
PURPOSE: To identify mutations in ornithine aminotransferase (OAT) in seven Japanese families with gyrate atrophy (GA), an autosomal recessive chorioretinal degeneration of the eye caused by a generalized biochemical deficiency in OAT; mutations in the OAT gene have shown a high degree of molecul...
Topics
- Amino Acid Sequence
- Base Sequence
- Codon
- Gyrate Atrophy
- Heterozygote
- Homozygote
- Humans
- Japan
- Mutation
- Ornithine-Oxo-Acid Transaminase
- Point Mutation
- Sequence Deletion