Article
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.
American journal of human genetics - 1 Jul 1992
Mashima Y, Murakami A, Weleber R G, Kennaway N G, Clarke L, Shiono T, Inana G
Abstract excerpt
A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye. Mutations in the OAT gene show a high degree of molecular heterogeneity in GA,...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Codon
- Electrophoresis, Polyacrylamide Gel
- Gyrate Atrophy
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Denaturation
- Ornithine-Oxo-Acid Transaminase
- Polymerase Chain Reaction
- RNA, Messenger