A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop). [electronic resource]
- Blood Sep 2014
- 1951-6 p. digital
Publication Type: Case Reports; Journal Article
1528-0020
10.1182/blood-2014-02-557538 doi
Adult Blood Coagulation Disorders, Inherited--blood Blood Coagulation Factors--therapeutic use Blood Coagulation Tests Codon, Nonsense DNA Mutational Analysis Female Humans Kidney Transplantation Male Mutant Proteins--blood Pancreas Transplantation Protein Structure, Tertiary Thrombomodulin--blood