Lario, Ana <br/><br/>
[New mutation in a young woman diagnosed with Niemann-Pick disease type C].  [electronic resource] 

 -  Medicina clinica  Jun 2016 
 - 494-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1578-8989 
<br/><br/><label>Standard No.: </label>10.1016/j.medcli.2016.01.031  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Carrier Proteins--genetics<br/>Female<br/>Genetic Markers<br/>Humans<br/>Intracellular Signaling Peptides and Proteins<br/>Membrane Glycoproteins--genetics<br/>Mutation<br/>Niemann-Pick C1 Protein<br/>Niemann-Pick Disease, Type C--diagnosis