Cao, Michelangelo <br/><br/>
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.  [electronic resource] 

 -  Neurogenetics  01 2016 
 - 65-70 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1364-6753 
<br/><br/><label>Standard No.: </label>10.1007/s10048-015-0465-x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>DNA Mutational Analysis<br/>Female<br/>Humans<br/>Hydro-Lyases--chemistry<br/>MELAS Syndrome--genetics<br/>Magnetic Resonance Imaging<br/>Mitochondrial Myopathies--genetics<br/>Models, Molecular<br/>Mutation<br/>Protein Conformation<br/>Survivors<br/>Syndrome