A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function

Blood

Volumn 125, Issue 11, 2015, Pages 1822-1825

  Cunha, Marisa L R ^a   Bakhtiari, Kamran ^a   Peter, Jorge ^a   Marquart, J Arnoud ^a   Meijers, Joost C M ^a,b   Middeldorp, Saskia ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b SANQUIN RESEARCH   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; FACTOR V AMSTERDAM; GENOMIC DNA; PROCOAGULANT; PROTHROMBIN; TISSUE FACTOR PATHWAY INHIBITOR; UNCLASSIFIED DRUG; DNA; FACTOR V CLOTTING ANTIGEN; LIPOPROTEIN; LIPOPROTEIN-ASSOCIATED COAGULATION INHIBITOR; PEPTIDE FRAGMENT; THROMBIN;

ARTICLE; BLEEDING TENDENCY; CLINICAL ARTICLE; DISEASE ASSOCIATION; EXOME; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; INDEL MUTATION; INHERITANCE; MALE; PARTIAL THROMBOPLASTIN TIME; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTHROMBIN TIME; SINGLE NUCLEOTIDE POLYMORPHISM; ALTERNATIVE RNA SPLICING; BIOSYNTHESIS; BLOOD; BLOOD CLOTTING DISORDER; CASE REPORT; CHEMISTRY; GENETICS; METABOLISM; MUTATION; NETHERLANDS;

ALTERNATIVE SPLICING; BLOOD COAGULATION DISORDERS, INHERITED; DNA; EXOME; FACTOR V; FEMALE; HUMANS; LIPOPROTEINS; MALE; MUTATION; NETHERLANDS; PEDIGREE; PEPTIDE FRAGMENTS; THROMBIN;

EID: 84931858449     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-08-592733     Document Type: Article

References (5)

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2. Vincent LM, Tran S, Livaja R, Bensend TA, Milewicz DM, Dahlbäck B. Coagulation factor V (A2440G) causes east Texas bleeding disorder via TFPIα. J Clin Invest. 2013;123(9):3777-3787.
3. Bos MH, Camire RM. A bipartite autoinhibitory region within the B-domain suppresses function in factor V. J Biol Chem. 2012;287(31):26342-26351.
4. Bunce MW, Bos MH, Krishnaswamy S, Camire RM. Restoring the procofactor state of factor Va-like variants by complementation with B-domain peptides. J Biol Chem. 2013;288(42):30151-30160.
5. Wood JP, Bunce MW, Maroney SA, Tracy PB, Camire RM, Mast AE. Tissue factor pathway inhibitor-alpha inhibits prothrombinase during the initiation of blood coagulation. Proc Natl Acad Sci USA. 2013;110(44):17838-17843.