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Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.
Nelson EJ, Li J, Mitchell WB, Chandy M, Srivastava A, Coller BS. Nelson EJ, et al. Among authors: li j. J Thromb Haemost. 2005 Dec;3(12):2773-83. doi: 10.1111/j.1538-7836.2005.01593.x. J Thromb Haemost. 2005. PMID: 16359515 Free PMC article.
Structural and therapeutic insights from the species specificity and in vivo antithrombotic activity of a novel alphaIIb-specific alphaIIbbeta3 antagonist.
Blue R, Kowalska MA, Hirsch J, Murcia M, Janczak CA, Harrington A, Jirouskova M, Li J, Fuentes R, Thornton MA, Filizola M, Poncz M, Coller BS. Blue R, et al. Among authors: li j. Blood. 2009 Jul 2;114(1):195-201. doi: 10.1182/blood-2008-08-169243. Epub 2009 May 4. Blood. 2009. PMID: 19414864 Free PMC article.
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