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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Detalles Bibliográficos
Autores principales: Maclachlan, Annabel, Dolan, Gerry, Grimley, Charlotte, Watson, Steve P., Morgan, Neil V., on behalf of the UK GAPP Study Group
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2017
Materias:
Short Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5646180/
https://www.ncbi.nlm.nih.gov/pubmed/28267383
http://dx.doi.org/10.1080/09537104.2017.1283011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5646180/
https://www.ncbi.nlm.nih.gov/pubmed/28267383
http://dx.doi.org/10.1080/09537104.2017.1283011

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