Macías-Vidal, Judit <br/><br/>
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.  [electronic resource] 

 -  Molecular genetics and metabolism  May 2009 
 - 60-4 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2009.01.007  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Carrier Proteins--genetics<br/>Codon, Nonsense--genetics<br/>Fibroblasts--pathology<br/>Genotype<br/>Humans<br/>Intracellular Signaling Peptides and Proteins<br/>Membrane Glycoproteins--genetics<br/>Mutation--genetics<br/>Niemann-Pick C1 Protein<br/>Niemann-Pick Disease, Type C--genetics<br/>Phenotype<br/>RNA Stability--genetics<br/>Spain