Horváth, Emese <br/><br/>
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report.  [electronic resource] 

 -  Journal of medical case reports  Jun 2014 
 - 233 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1752-1947 
<br/><br/><label>Standard No.: </label>10.1186/1752-1947-8-233  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mutation, Missense<br/>Receptors, Glycine--genetics<br/>Stiff-Person Syndrome--genetics