Signorino, Giulia <br/><br/>
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.  [electronic resource] 

 -  Human mutation  02 2018 
 - 266-280 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23370  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Line<br/>Dystroglycans--genetics<br/>Humans<br/>Leukoencephalopathies--genetics<br/>Mutant Proteins--genetics<br/>Walker-Warburg Syndrome--genetics