Mazzei, Rosalucia <br/><br/>
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.  [electronic resource] 

 -  Journal of neurology  Oct 2002 
 - 1398-400 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0340-5354 
<br/><br/><label>Standard No.: </label>10.1007/s00415-002-0849-3  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution--genetics<br/>Child<br/>Cytoplasmic Granules--pathology<br/>DNA Mutational Analysis<br/>Female<br/>Humans<br/>Membrane Proteins--genetics<br/>Mutation<br/>Neuronal Ceroid-Lipofuscinoses--genetics<br/>Polymerase Chain Reaction<br/>Skin--pathology<br/>Thiolester Hydrolases