Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects
Abstract
Primary platelet secretion defects constitute a heterogeneous group of functional defects characterized by reduced platelet granule secretion upon stimulation by different agonists. The clinical and laboratory heterogeneity of primary platelet secretion defects warrants a tailored approach. We performed a pilot study in order to develop DNA sequence analysis pipelines for gene discovery and to create a list of candidate causal genes for platelet...
Paper Details
Title
Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects
Published Date
Feb 28, 2019
Journal
Volume
104
Issue
10
Pages
2084 - 2090
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