Hrebícek, Martin <br/><br/>
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).  [electronic resource] 

 -  American journal of human genetics  Nov 2006 
 - 807-19 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/508294  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetyltransferases--chemistry<br/>Amino Acid Sequence<br/>Animals<br/>Base Sequence<br/>Cell Line<br/>Chromosome Mapping<br/>Chromosomes, Human, Pair 8--genetics<br/>Cloning, Molecular<br/>DNA Mutational Analysis<br/>DNA, Complementary--genetics<br/>Exons<br/>Female<br/>Gene Expression<br/>Humans<br/>Male<br/>Mice<br/>Molecular Sequence Data<br/>Mucopolysaccharidosis III--enzymology<br/>Mutation<br/>Pedigree<br/>Polymerase Chain Reaction<br/>Recombinant Fusion Proteins--genetics<br/>Sequence Homology, Amino Acid<br/>Transfection