Ohno, K <br/><br/>
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.  [electronic resource] 

 -  Human molecular genetics  May 1997 
 - 753-66 p.  digital 
<br/><br/> Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0964-6906 
<br/><br/><label>Standard No.: </label>10.1093/hmg/6.5.753  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetylcholine--pharmacology<br/>Action Potentials<br/>Adult<br/>Alleles<br/>Amino Acid Sequence<br/>Animals<br/>Binding, Competitive<br/>Child<br/>Child, Preschool<br/>Electrophysiology<br/>Female<br/>Fibroblasts--drug effects<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Kinetics<br/>Male<br/>Mice<br/>Molecular Sequence Data<br/>Motor Endplate--metabolism<br/>Mutation<br/>Myasthenia Gravis--congenital<br/>Patch-Clamp Techniques<br/>Rats<br/>Receptors, Cholinergic--deficiency<br/>Recombinant Proteins--genetics<br/>Sequence Alignment<br/>Sequence Homology, Amino Acid<br/>Transfection