Echaniz-Laguna, Andoni <br/><br/>
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.  [electronic resource] 

 -  Neurology  Oct 2013 
 - 1523-30 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1526-632X 
<br/><br/><label>Standard No.: </label>10.1212/WNL.0b013e3182a4a518  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Age of Onset<br/>Charcot-Marie-Tooth Disease--genetics<br/>Child, Preschool<br/>Consanguinity<br/>Female<br/>Homozygote<br/>Humans<br/>Male<br/>Membrane Proteins--deficiency<br/>Middle Aged<br/>Mitochondrial Proteins--deficiency<br/>Mutation--genetics<br/>Pedigree<br/>Phenotype<br/>RNA Splicing--genetics