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Article

β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia.

Journal of thrombosis and haemostasis : JTH - 1 Apr 2015

Basciano P A, Matakas J, Pecci A, Civaschi E, Cagioni C, Bompiani N, Burger P, Christos P, Snyder J P, Bussel J, Balduini C L, Giannakakou P, Noris P

Abstract excerpt

BACKGROUND: Single nucleotide polymorphisms (SNPs) in platelet-associated genes partly explain inherent variability in platelet counts. Patients with monoallelic Bernard Soulier syndrome due to the Bolzano mutation (GPIBA A156V) have variable platelet counts despite a common mutation for unknown reasons. OBJECTIVES: We investigated the effect of the most common SNP (R307H) in the hematopoietic-specific tubulin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25529050
DOI: 10.1111/jth.12824

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