Article
Cytochrome b mutations in Leber hereditary optic neuropathy.
Biochemical and biophysical research communications - 31 Dec 1991
Johns D R, Neufeld M J
Abstract excerpt
New mutations were discovered in the apocytochrome b gene in Leber hereditary optic neuropathy probands who did not harbor either of the two known Complex I mutations (positions 3,460 and 11,778). A mutation at position 15,257 was found in eight independent probands which changed a highly conserved aspartate to asparagine, was not found in controls, and appears to be pathogenetically significant. The 15,257...
Topics
- Amino Acid Sequence
- Base Sequence
- Cytochrome b Group
- DNA, Mitochondrial
- Electron Transport Complex II
- Humans
- Molecular Sequence Data
- Multienzyme Complexes
- Mutation
- NAD(P)H Dehydrogenase (Quinone)
- Oligodeoxyribonucleotides