Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy.
Ji, Yanchun
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. [electronic resource] - Human molecular genetics 05 2019 - 1515-1529 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddy450 doi
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
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. [electronic resource] - Human molecular genetics 05 2019 - 1515-1529 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddy450 doi
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