Afshar-Kharghan, V <br/><br/>
Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein ib alpha gene.  [electronic resource] 

 -  British journal of haematology  Sep 2000 
 - 919-24 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0007-1048 
<br/><br/><label>Standard No.: </label>10.1046/j.1365-2141.2000.02261.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Bernard-Soulier Syndrome--blood<br/>Blood Platelets--chemistry<br/>Female<br/>Flow Cytometry<br/>Frameshift Mutation<br/>Gene Deletion<br/>Heterozygote<br/>Humans<br/>Immunoblotting--methods<br/>Infant<br/>Mutagenesis, Site-Directed<br/>Platelet Function Tests<br/>Platelet Glycoprotein GPIb-IX Complex--analysis<br/>Sequence Analysis, DNA