Article
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.
Blood - 1 Apr 2008
Ghevaert Cedric, Salsmann Alexandre, Watkins Nicholas A, Schaffner-Reckinger Elisabeth, Rankin Angela, Garner Stephen F, Stephens Jonathan, Smith Graham A, Debili Najet, Vainchenker William, de Groot Philip G, Huntington James A, Laffan Mike, Kieffer Nelly, Ouwehand Willem H
Abstract excerpt
We report a 3-generation pedigree with 5 individuals affected with a dominantly inherited macrothrombocytopenia. All 5 carry 2 nonsynonymous mutations resulting in a D723H mutation in the beta3 integrin and a P53L mutation in glycoprotein (GP) Ibalpha. We show that GPIbalpha-L53 is phenotypically silent, being also present in 3 unaffected pedigree members and in 7 of 1639 healthy controls. The beta3-H723 causes...
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