Mozas, Pilar <br/><br/>
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.  [electronic resource] 

 -  Human mutation  Aug 2004 
 - 187 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.9264  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Codon, Nonsense--genetics<br/>Exons--genetics<br/>Frameshift Mutation--genetics<br/>Genetic Carrier Screening--methods<br/>Humans<br/>Hyperlipoproteinemia Type II--genetics<br/>Introns--genetics<br/>Mutation--genetics<br/>Mutation, Missense--genetics<br/>Receptors, LDL--genetics<br/>Spain--epidemiology