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

Blood

Volumn 124, Issue 12, 2014, Pages 1951-1956

  Langdown, Jonathan ^a   Luddington, Roger J ^a   Huntington, James A ^b   Baglin, Trevor P ^a  

^a CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN C; THROMBOMODULIN; THROMBOPLASTIN; BLOOD CLOTTING FACTOR; MUTANT PROTEIN; PROTHROMBIN COMPLEX CONCENTRATES; STOP CODON; THBD PROTEIN, HUMAN;

ARTICLE; BLEEDING DISORDER; CARBOXY TERMINAL SEQUENCE; GENE MUTATION; GENETIC DISORDER; HEMOSTASIS; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREMATURITY; SCREENING TEST; STOP CODON; THROMBOCYTE FUNCTION; ADULT; BLOOD; BLOOD CLOTTING TEST; BLOOD COAGULATION DISORDERS, INHERITED; CASE REPORT; CHEMISTRY; FEMALE; GENETICS; KIDNEY TRANSPLANTATION; MALE; PANCREAS TRANSPLANTATION; PROTEIN TERTIARY STRUCTURE;

ADULT; BLOOD COAGULATION DISORDERS, INHERITED; BLOOD COAGULATION FACTORS; BLOOD COAGULATION TESTS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; KIDNEY TRANSPLANTATION; MALE; MUTANT PROTEINS; PANCREAS TRANSPLANTATION; PROTEIN STRUCTURE, TERTIARY; THROMBOMODULIN;

EID: 84907221155     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-02-557538     Document Type: Article

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