Lelli, N <br/><br/>
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).  [electronic resource] 

 -  Human genetics  May 1994 
 - 538-40 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0340-6717 
<br/><br/><label>Standard No.: </label>10.1007/BF00202819  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Blotting, Southern<br/>Cysteine<br/>DNA--analysis<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Humans<br/>Hyperlipoproteinemia Type II--genetics<br/>Italy<br/>Male<br/>Molecular Sequence Data<br/>Phenylalanine<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Receptors, LDL--genetics