Miraglia Del Giudice, E <br/><br/>
A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia.  [electronic resource] 

 -  Journal of medical genetics  May 2003 
 - e71 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.40.5.e71  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>DNA Mutational Analysis<br/>Female<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Protein Structure, Tertiary<br/>Receptors, Glycine--chemistry<br/>Reflex, Startle--physiology