Journal article
Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation
Abstract
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.
Authors
Badin MS; Iyer JK; Chong M; Graf L; Rivard GE; Waye JS; Paterson AD; Pare G; Hayward CPM
Journal
Haemophilia, Vol. 23, No. 3, pp. e204–e213
Publisher
Wiley
Publication Date
May 2017
DOI
10.1111/hae.13169
ISSN
1351-8216