Del Dotto, Valentina <br/><br/>
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.  [electronic resource] 

 -  The Journal of clinical investigation  01 2020 
 - 108-125 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1558-8238 
<br/><br/><label>Standard No.: </label>10.1172/JCI128514  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>DNA Polymerase gamma--physiology<br/>DNA Replication<br/>DNA, Mitochondrial--genetics<br/>DNA-Binding Proteins--chemistry<br/>Exome<br/>Female<br/>Humans<br/>Male<br/>Mitochondria--metabolism<br/>Mitochondrial Proteins--chemistry<br/>Mutation<br/>Optic Atrophies, Hereditary--etiology<br/>Zebrafish