Losonczy, Gergely <br/><br/>
A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.  [electronic resource] 

 -  Thrombosis and haemostasis  May 2005 
 - 904-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0340-6245 
<br/><br/><label>Standard No.: </label>10.1160/TH04-12-0848  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Blood Platelets--metabolism<br/>Blotting, Western<br/>Cell Line<br/>Child<br/>Cricetinae<br/>Cytosine--chemistry<br/>DNA--metabolism<br/>Electrophoresis, Polyacrylamide Gel<br/>Exons<br/>Family Health<br/>Female<br/>Flow Cytometry<br/>Gene Deletion<br/>Homozygote<br/>Humans<br/>Immunoprecipitation<br/>Integrin alphaVbeta3--biosynthesis<br/>Integrin beta3--genetics<br/>Male<br/>Mutagenesis, Site-Directed<br/>Mutation<br/>Platelet Glycoprotein GPIIb-IIIa Complex--genetics<br/>Platelet Membrane Glycoprotein IIb--genetics<br/>Polymerase Chain Reaction<br/>Protein Binding<br/>Protein Structure, Tertiary<br/>RNA, Messenger--metabolism<br/>Sequence Analysis, DNA<br/>Thrombasthenia--genetics<br/>Transfection