Crimella, C <br/><br/>
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.  [electronic resource] 

 -  Journal of medical genetics  Oct 2010 
 - 712-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2010.077909  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Age of Onset<br/>Axons--metabolism<br/>Charcot-Marie-Tooth Disease--genetics<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Electrophysiology<br/>Gene Deletion<br/>Genes, Dominant<br/>Glutathione Transferase--genetics<br/>Humans<br/>Italy<br/>Molecular Sequence Data<br/>Mutation<br/>Mutation, Missense<br/>Nerve Tissue Proteins--chemistry<br/>Pedigree<br/>Phenotype<br/>Sequence Analysis, DNA<br/>Young Adult