Ulzi, Gianna <br/><br/>
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.  [electronic resource] 

 -  Journal of the neurological sciences  Jul 2012 
 - 65-71 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1878-5883 
<br/><br/><label>Standard No.: </label>10.1016/j.jns.2012.03.024  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Cell Line<br/>Cell Membrane--genetics<br/>Child<br/>Chloride Channels--genetics<br/>Electric Conductivity<br/>Female<br/>Genetic Predisposition to Disease--genetics<br/>Humans<br/>Italy<br/>Male<br/>Middle Aged<br/>Mutation, Missense--genetics<br/>Myotonia Congenita--genetics<br/>Patch-Clamp Techniques<br/>Young Adult