Bessa, C <br/><br/>
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.  [electronic resource] 

 -  Molecular genetics and metabolism  Nov 2006 
 - 245-53 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2006.04.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Aminopeptidases<br/>Base Sequence<br/>Brain--diagnostic imaging<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Dipeptidyl-Peptidases and Tripeptidyl-Peptidases<br/>Endopeptidases--genetics<br/>Female<br/>Fibroblasts--metabolism<br/>Gene Expression Profiling<br/>Gene Expression Regulation<br/>Genome, Human--genetics<br/>Humans<br/>Lysosomal Membrane Proteins<br/>Magnetic Resonance Imaging<br/>Membrane Glycoproteins--genetics<br/>Membrane Proteins--deficiency<br/>Molecular Chaperones--genetics<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Neuronal Ceroid-Lipofuscinoses--genetics<br/>Portugal<br/>RNA, Messenger--genetics<br/>Radiography<br/>Serine Proteases<br/>Sweat Glands--ultrastructure<br/>Thiolester Hydrolases<br/>Tripeptidyl-Peptidase 1