Article
Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases.
FEBS letters - 21 Aug 1998
Rossmanith W, Karwan R M
Abstract excerpt
Several point mutations in mitochondrial tRNA genes have been linked to distinct clinical subgroups of mitochondrial diseases. A particularly large number of different mutations is found in the tRNA(Leu)(UUR) gene. We show that base substitutions at nucleotide position 3256, 3260, and 3271 of the...
Topics
- Anticodon
- Base Sequence
- Codon
- Endoribonucleases
- Genetic Diseases, Inborn
- Genetic Variation
- Humans
- Mitochondrial Myopathies
- Molecular Sequence Data
- Nucleic Acid Conformation
- Point Mutation
- RNA
