Article
Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding
19 Jun 2019
Abstract excerpt
Inherited thrombocytopenia (IT) is comprised of a group of hereditary disorders characterized by a reduced platelet count as the main feature, and often with abnormal platelet function, which can subsequently lead to impaired haemostasis. Inherited thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance. The identification of the...
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