Kwon, Jennifer M <br/><br/>
Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.  [electronic resource] 

 -  Neuroscience letters  Oct 2005 
 - 111-4 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>0304-3940 
<br/><br/><label>Standard No.: </label>10.1016/j.neulet.2005.07.023  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Brain--metabolism<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis<br/>Disease Progression<br/>Exons--genetics<br/>Female<br/>Genetic Predisposition to Disease--genetics<br/>Humans<br/>Membrane Glycoproteins--genetics<br/>Molecular Chaperones--genetics<br/>Mutation--genetics<br/>Neuronal Ceroid-Lipofuscinoses--genetics<br/>Phenotype<br/>Point Mutation--genetics<br/>Protein Structure, Tertiary--genetics