Article
A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
Human genetics - 1 Nov 1992
Mashima Y, Weleber R G, Kennaway N G, Inana G
Abstract excerpt
Gyrate atrophy (GA) is an autosomal recessive eye disease involving a progressive loss of vision due to chorioretinal degeneration in which the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is defective. Two sisters with GA are described in this study in whom an A-to-G substitution at the 3' splice acceptor site of intron 4 in one allele of the OAT gene results in a truncated OAT mRNA devoid of...
Topics
- Adenine
- Base Sequence
- DNA
- Female
- Guanine
- Gyrate Atrophy
- Humans
- Molecular Sequence Data
- Mutation
- Ornithine-Oxo-Acid Transaminase
- Polymerase Chain Reaction