Barøy, Tuva <br/><br/>
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.  [electronic resource] 

 -  European journal of medical genetics  Jun 2016 
 - 342-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2016.05.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>DNA, Mitochondrial--genetics<br/>Exome--genetics<br/>F-Box Proteins--genetics<br/>Fibroblasts--metabolism<br/>Humans<br/>Male<br/>Metabolism, Inborn Errors--genetics<br/>Mitochondrial Encephalomyopathies--epidemiology<br/>Muscle, Skeletal--pathology<br/>Mutation, Missense<br/>Norway--epidemiology<br/>Ubiquitin-Protein Ligases--genetics