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. & Watson, S.

  British Heart Foundation

  28/09/15 → 27/09/18

  Project: Research

  • Blood Platelets 100%
  • Hemorrhage 50%
  • Scott Syndrome 35%
  • Genes 25%
  • Whole Exome Sequencing 24%

• Molecular Genetic Investigation of Patients with Congenital Thrombocytopenias

  Morgan, N., Harrison, P., Lowe, G. & Watson, S.

  British Heart Foundation

  18/11/13 → 17/11/16

  Project: Research

  • Blood Platelets 100%
  • Thrombocytopenia 58%
  • Hemorrhage 46%
  • Whole Exome Sequencing 37%
  • Genes 26%