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

Abstract excerpt

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...

Topics

• Blood Platelet Disorders
• Blood Platelets
• Codon, Terminator
• Exome
• Female
• Genes, Dominant
• Heterozygote
• Humans
• Male
• Mutation
• Platelet Aggregation
• Thrombomodulin