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

Search results

• Finished

  Identification and functional investigation of genes in patients with inherited bleeding disorders

  Morgan, N. (Principal Investigator) & Watson, S. (Co-Investigator)

  British Heart Foundation

  28/09/15 → 27/09/18

  Project: Research

  • Platelets 100%
  • Platelet 89%
  • Platelet Disorder 80%
  • Inherited Platelet Disorders 68%
  • Thrombocyte Function 59%

• Molecular Genetic Investigation of Patients with Congenital Thrombocytopenias

  Morgan, N. (Principal Investigator), Harrison, P. (Co-Investigator), Lowe, G. (Co-Investigator) & Watson, S. (Co-Investigator)

  British Heart Foundation

  18/11/13 → 17/11/16

  Project: Research

  • Platelet 100%
  • Platelets 86%
  • Thrombocytopenia 49%
  • Whole Exome Sequencing 49%
  • Exome Sequencing 45%