Ji, Yanchun <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddy450  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Sequence<br/>Animals<br/>Axons--metabolism<br/>Cell Line<br/>Genes, Mitochondrial<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Mice<br/>Mitochondria--genetics<br/>Mutation<br/>NADH Dehydrogenase--chemistry<br/>Neurodegenerative Diseases--genetics<br/>Optic Atrophy, Hereditary, Leber--diagnosis<br/>Phenotype<br/>Phosphorylation<br/>Synaptic Transmission<br/>Synaptic Vesicles--metabolism