Cetica, Valentina <br/><br/>
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.  [electronic resource] 

 -  Journal of medical genetics  Sep 2010 
 - 595-600 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2009.075341  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Cell Degranulation<br/>Child<br/>Child, Preschool<br/>Cytotoxicity, Immunologic<br/>Female<br/>Flow Cytometry<br/>Humans<br/>Immunoprecipitation<br/>Infant<br/>Lymphohistiocytosis, Hemophagocytic--classification<br/>Lysosomal-Associated Membrane Protein 1--metabolism<br/>Male<br/>Munc18 Proteins--genetics<br/>Mutation--genetics<br/>T-Lymphocytes, Cytotoxic--physiology