Scuderi, Carmela <br/><br/>
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Apr 2015 
 - 333-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2015.01.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>DNA Polymerase gamma<br/>DNA-Directed DNA Polymerase--genetics<br/>Family<br/>Female<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Middle Aged<br/>Mitochondrial Diseases--genetics<br/>Point Mutation