Boizot, Alexia <br/><br/>
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.  [electronic resource] 

 -  Acta neuropathologica communications  Apr 2014 
 - 47 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2051-5960 
<br/><br/><label>Standard No.: </label>10.1186/2051-5960-2-47  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Animals<br/>COS Cells<br/>Child<br/>Chlorocebus aethiops<br/>Cytoskeletal Proteins--metabolism<br/>DNA Mutational Analysis<br/>Datasets as Topic<br/>Female<br/>Gene Expression Regulation--genetics<br/>Giant Axonal Neuropathy--genetics<br/>Humans<br/>Male<br/>Models, Molecular<br/>Mutation--genetics<br/>Phenotype<br/>Transfection<br/>Young Adult