Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays

Thrombosis and Haemostasis

Volumn 111, Issue 5, 2014, Pages 851-861

  Pavlova, Anna ^a   Delev, Daniel ^a   Pezeshkpoor, Behnaz ^a   Müller, Jens ^a   Oldenburg, Johannes ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Discrepant assay; Haemophilia A; Missense mutations

Indexed keywords

THROMBIN; BLOOD CLOTTING FACTOR 8; CHROMOGENIC SUBSTRATE;

ARTICLE; BINDING SITE; BLEEDING; CHROMOGENIC FACTOR VIII ASSAY; CONTROLLED STUDY; DISEASE SEVERITY; DNA ISOLATION; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; GENETIC ANALYSIS; HEMATOLOGY TEST KIT; HEMOPHILIA A; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; STRUCTURE ANALYSIS; BLOOD CLOTTING TEST; CHEMISTRY; DISEASE COURSE; EARLY DIAGNOSIS; GENETIC SCREENING; GENETICS; METABOLISM; OBSERVER VARIATION; PHENOTYPE; PROCEDURES; PROTEIN CONFORMATION;

BLOOD COAGULATION TESTS; CHROMOGENIC COMPOUNDS; DISEASE PROGRESSION; EARLY DIAGNOSIS; FACTOR VIII; GENETIC TESTING; HEMOPHILIA A; HUMANS; MUTATION, MISSENSE; OBSERVER VARIATION; PHENOTYPE; PROTEIN CONFORMATION;

EID: 84899768541     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH13-08-0690     Document Type: Article

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