Aiello, Chiara <br/><br/>
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.  [electronic resource] 

 -  Human mutation  Mar 2009 
 - E530-40 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.20975  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Sequence<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Female<br/>Gene Frequency<br/>Humans<br/>Italy<br/>Magnetic Resonance Imaging<br/>Male<br/>Membrane Transport Proteins--genetics<br/>Molecular Sequence Data<br/>Mutation<br/>Neuronal Ceroid-Lipofuscinoses--genetics<br/>Pedigree<br/>Sequence Homology, Amino Acid