Article
Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).
American journal of human genetics - 1 Oct 1993
Johns D R, Neufeld M J
Abstract excerpt
Pathogenetic mutations in mtDNA are found in the majority of patients with Leber hereditary optic neuropathy (LHON), and molecular genetic techniques to detect them are important for the diagnosis. A false-positive molecular genetic error has adverse consequences for the diagnosis of this materna...
Topics
- Base Sequence
- DNA, Mitochondrial
- False Positive Reactions
- Humans
- Molecular Sequence Data
- Mutation
- NADH Dehydrogenase
- Optic Atrophies, Hereditary
- Polymorphism, Genetic