Kraner, S <br/><br/>
Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene.  [electronic resource] 

 -  European journal of neurology  Nov 2002 
 - 694-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1351-5101 
<br/><br/><label>Standard No.: </label>10.1046/j.1468-1331.2002.00447_7.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Codon, Nonsense<br/>Female<br/>Humans<br/>Mutation, Missense<br/>Myasthenic Syndromes, Congenital--genetics<br/>Protein Subunits<br/>Receptors, Cholinergic--genetics