Article
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
Genetics - 1 Jan 1992
Brown M D, Voljavec A S, Lott M T, Torroni A, Yang C C, Wallace D C
Abstract excerpt
Four new missense mutations have been identified through restriction analysis and sequencing of the mitochondrial DNAs (mtDNA) from Leber's hereditary optic neuropathy (LHON) patients who lacked the previously identified 11778 mutation. Each altered a conserved amino acid and correlated with the...
Topics
- Base Sequence
- Cytochrome b Group
- DNA, Mitochondrial
- Female
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Optic Atrophies, Hereditary
- Pedigree
- Phylogeny
- Polymerase Chain Reaction
- RNA, Transfer, Ala
- RNA, Transfer, Ser
- Restriction Mapping
- White People