A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
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W. Ouwehand | N. Watkins | W. Vainchenker | N. Debili | J. Stephens | P. D. de Groot | N. Kieffer | J. Huntington | M. Laffan | S. Garner | A. Rankin | C. Ghevaert | Graham A. Smith | E. Schaffner-Reckinger | A. Salsmann