Coagulation factor VA2440G causes east Texas bleeding disorder via TFPIα

Journal of Clinical Investigation

Volumn 123, Issue 9, 2013, Pages 3777-3787

  Vincent, Lisa M ^a,c   Tran, Sinh ^b   Livaja, Ruzica ^b   Bensend, Tracy A ^a   Milewicz, Dianna M ^a   Dahlbäck, Bjor̈n ^b  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b LUND UNIVERSITY   (Sweden)

^c GENEDX   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; BLOOD CLOTTING FACTOR 5; RECOMBINANT TISSUE FACTOR PATHWAY INHIBITOR; THROMBIN; TISSUE FACTOR PATHWAY INHIBITOR; ISOPROTEIN; LIPOPROTEIN; LIPOPROTEIN-ASSOCIATED COAGULATION INHIBITOR; PROTEIN BINDING;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEEDING DISORDER; BLOOD CLOTTING TEST; BLOOD SAMPLING; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; GENE DELETION; GENETIC VARIABILITY; HEAVY CHAIN; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INHIBITION KINETICS; LEUKOCYTE; MUTATIONAL ANALYSIS; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UPREGULATION; BINDING COMPETITION; BLOOD; BLOOD CLOTTING; BLOOD CLOTTING DISORDER; GENETIC ASSOCIATION; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION;

BASE SEQUENCE; BINDING, COMPETITIVE; BLOOD COAGULATION; BLOOD COAGULATION DISORDERS, INHERITED; DNA MUTATIONAL ANALYSIS; FACTOR V; GENETIC ASSOCIATION STUDIES; HEMORRHAGIC DISORDERS; HUMANS; LIPOPROTEINS; MOLECULAR SEQUENCE DATA; POINT MUTATION; PROTEIN BINDING; PROTEIN ISOFORMS;

EID: 84883543544     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI69091     Document Type: Article

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