Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function

Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function

Here, we describe a mother and son with a lifelong bleeding tendency and posttraumatic bleeding who were recruited to the UK Genotyping and Phenotyping of Platelets (GAPP) study with a suspected platelet function disorder. However, despite a clinically significant bleeding score, both had normal pla...

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Bibliographic Details
Main Authors: Annabel Maclachlan, Gerry Dolan, Charlotte Grimley, Steve P. Watson, Neil V. Morgan, on behalf of the UK GAPP Study Group
Format: Article
Language:English
Published: Taylor & Francis Group 2017-08-01
Series:Platelets
Subjects:
genetics
inherited bleeding
next-generation sequencing
platelets
thrombomodulin
Online Access:http://dx.doi.org/10.1080/09537104.2017.1283011

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