Ishigaki, Keiko <br/><br/>
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Mar 2003 
 - 236-44 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0960-8966 
<br/><br/><label>Standard No.: </label>10.1016/s0960-8966(02)00243-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetylcholinesterase--deficiency<br/>Adult<br/>Alanine--genetics<br/>Animals<br/>Bungarotoxins<br/>Collagen--genetics<br/>DNA Mutational Analysis--methods<br/>Exons<br/>Female<br/>Gene Expression<br/>Glycine--genetics<br/>Humans<br/>In Vitro Techniques<br/>Microscopy, Confocal--methods<br/>Microscopy, Electron--methods<br/>Middle Aged<br/>Motor Endplate--enzymology<br/>Muscle Proteins<br/>Muscle, Skeletal--enzymology<br/>Mutation<br/>Myasthenic Syndromes, Congenital--etiology<br/>Oocytes<br/>Polymerase Chain Reaction--methods<br/>Polymorphism, Single-Stranded Conformational<br/>RNA, Messenger--biosynthesis<br/>Rats<br/>Xenopus