Roos, Sara <br/><br/>
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.  [electronic resource] 

 -  European journal of human genetics : EJHG  May 2013 
 - 571-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2012.153  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Anticodon--genetics<br/>Base Pairing<br/>Base Sequence<br/>Cell Respiration--physiology<br/>Cytochrome-c Oxidase Deficiency--genetics<br/>Histological Techniques<br/>Humans<br/>Male<br/>Mitochondrial Encephalomyopathies--genetics<br/>Molecular Sequence Data<br/>Muscle, Skeletal--pathology<br/>Mutation--genetics<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Polymorphism, Restriction Fragment Length<br/>RNA, Transfer, Arg--genetics<br/>Sequence Analysis, DNA<br/>Sweden