Botta, Margherita <br/><br/>
Deciphering the role of V200A and N291S mutations leading to LPL deficiency.  [electronic resource] 

 -  Atherosclerosis  03 2019 
 - 45-51 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1879-1484 
<br/><br/><label>Standard No.: </label>10.1016/j.atherosclerosis.2019.01.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>HEK293 Cells<br/>Heterozygote<br/>Humans<br/>Hyperlipoproteinemia Type I--blood<br/>Hypertriglyceridemia<br/>Lipoprotein Lipase--deficiency<br/>Male<br/>Mutagenesis, Site-Directed<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Protein Multimerization<br/>Sequence Analysis, DNA