Vedrenne, Vanessa <br/><br/>
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.  [electronic resource] 

 -  American journal of human genetics  Nov 2012 
 - 912-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2012.09.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Brain--pathology<br/>Child, Preschool<br/>DNA, Mitochondrial--genetics<br/>Exons<br/>Exoribonucleases--genetics<br/>Female<br/>Hep G2 Cells<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Mitochondrial Diseases--diagnosis<br/>Mutation<br/>RNA Interference<br/>RNA Transport--genetics<br/>RNA, Ribosomal--metabolism<br/>RNA, Transfer--metabolism