Discovery of novel variants underlying inherited bleeding and platelet disorders by next generation sequencing

Genetic variants that affect megakaryopoiesis and platelet formation result in inherited bleeding and platelet disorders (BPD). Only 40-60% of cases will receive a diagnosis indicating the pathway at fault [1, 2]. This thesis is the result of work undertaken to discover novel variants causative of B...

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Bibliographic Details
Main Author: Bariana, Tadbir Kaur
Published: University College London (University of London) 2018
Subjects:
Online Access:https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.763305