Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. [electronic resource]
Producer: 20200311Description: 1515-1529 p. digitalISSN:- 1460-2083
- Alleles
- Amino Acid Sequence
- Animals
- Axons -- metabolism
- Cell Line
- Genes, Mitochondrial
- Genetic Association Studies
- Genetic Predisposition to Disease
- Mice
- Mitochondria -- genetics
- Mutation
- NADH Dehydrogenase -- chemistry
- Neurodegenerative Diseases -- genetics
- Optic Atrophy, Hereditary, Leber -- diagnosis
- Phenotype
- Phosphorylation
- Synaptic Transmission
- Synaptic Vesicles -- metabolism
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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