Shapira, Y A <br/><br/>
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.  [electronic resource] 

 -  Neurology  Feb 2002 
 - 603-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0028-3878 
<br/><br/><label>Standard No.: </label>10.1212/wnl.58.4.603  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetylcholinesterase--biosynthesis<br/>Action Potentials--genetics<br/>Adolescent<br/>Adult<br/>Amino Acid Substitution--genetics<br/>Animals<br/>COS Cells--metabolism<br/>Child<br/>Child, Preschool<br/>Collagen--biosynthesis<br/>Female<br/>Genetic Variation--genetics<br/>Glycine--genetics<br/>Humans<br/>Male<br/>Middle Aged<br/>Motor Endplate--genetics<br/>Muscle Proteins<br/>Mutation--genetics<br/>Myasthenic Syndromes, Congenital--genetics<br/>Pedigree<br/>Phenotype