Caporali, Leonardo <br/><br/>
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.  [electronic resource] 

 -  PLoS genetics  02 2018 
 - e1007210 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1553-7404 
<br/><br/><label>Standard No.: </label>10.1371/journal.pgen.1007210  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>DNA, Mitochondrial--genetics<br/>Electron Transport Complex I--chemistry<br/>Epistasis, Genetic<br/>Family<br/>Female<br/>Genes, Mitochondrial<br/>Humans<br/>Male<br/>Models, Molecular<br/>Multifactorial Inheritance<br/>Mutation, Missense<br/>NADH Dehydrogenase--chemistry<br/>Optic Atrophy, Hereditary, Leber--genetics<br/>Pedigree<br/>Penetrance<br/>Young Adult