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A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop).

Langdown, Jonathan

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

ISSN: 1528-0020

Standard No.: 10.1182/blood-2014-02-557538 doi

Subjects--Topical Terms:
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

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