Pece-Barbara, N <br/><br/>
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.  [electronic resource] 

 -  Human molecular genetics  Nov 1999 
 - 2171-81 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0964-6906 
<br/><br/><label>Standard No.: </label>10.1093/hmg/8.12.2171  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Antigens, CD<br/>Base Sequence<br/>COS Cells<br/>Cell Line<br/>Cell Membrane--metabolism<br/>DNA Primers<br/>Endoglin<br/>Haplotypes<br/>Humans<br/>Mutation, Missense<br/>Receptors, Cell Surface<br/>Telangiectasia, Hereditary Hemorrhagic--genetics<br/>Vascular Cell Adhesion Molecule-1--genetics