Article
Inherited disorders of platelet function: selected updates.
Journal of thrombosis and haemostasis : JTH - 1 Jun 2015
Nurden A T, Nurden P
Abstract excerpt
The gene variants responsible for the primary genotype of many platelet disorders have now been identified. Next-generation sequencing technology (NGST), mainly exome sequencing, has highlighted genes responsible for defects in platelet secretion (NBEAL2, gray platelet syndrome), procoagulant activity (STIM1, Stormorken syndrome), and activation pathways (RASGRP2, CalDAG-GEFI deficiency and integrin dysfunction;...
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