Article
Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2017
Badin M S, Iyer J K, Chong M, Graf L, Rivard G E, Waye J S, Paterson A D, Pare G, Hayward C P M
Abstract excerpt
INTRODUCTION: Inherited defects in RUNX1 are important causes of platelet function disorders. AIM: Our goals were to evaluate RUNX1-related platelet disorders among individuals evaluated for uncharacterized, inherited platelet function disorders and test a proof of concept that bleeding risks could be quantitatively estimated for typical families with an inherited platelet function disorder. METHODS: Index cases...
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