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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.
Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH. Ghevaert C, et al. Among authors: vainchenker w. Blood. 2008 Apr 1;111(7):3407-14. doi: 10.1182/blood-2007-09-112615. Epub 2007 Dec 7. Blood. 2008. PMID: 18065693 Free article.
Fibrinogen is not synthesized by human megakaryocytes.
Louache F, Debili N, Cramer E, Breton-Gorius J, Vainchenker W. Louache F, et al. Among authors: vainchenker w. Blood. 1991 Jan 15;77(2):311-6. Blood. 1991. PMID: 1985697 Free article.
546 results