Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V

Haematologica

Volumn 93, Issue 8, 2008, Pages 1273-1275

  Herrmann, Falko H ^a,e   Wulff, Karin ^a   Strey, Rüdiger ^a   Siegemund, Annelie ^b   Astermark, Jan ^c   Schulman, Sam ^d  

^a Institute of Human Genetics   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

^d HHS General Hospital   (Canada)

^e UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

Clinical variability; Endogenous thrombin potential; Factor VII deficiency; Mutation A294V

Indexed keywords

BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; PROTEIN C; THROMBOPLASTIN;

ADULT; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD SAMPLING; BRAIN HEMORRHAGE; CARDIOVASCULAR RISK; CONTROLLED STUDY; DISEASE SEVERITY; EPISTAXIS; EUROPE; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GINGIVA BLEEDING; HEMARTHROSIS; HEMATOMA; HEMATURIA; HEMOPHILIA A; HEMOPHILIA B; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MENORRHAGIA; ORAL BLEEDING; PLASMA; SKIN BRUISING; THROMBOSIS; WILD TYPE;

AMINO ACID SUBSTITUTION; BLOOD COAGULATION DISORDERS, INHERITED; FACTOR V; FACTOR VII; FACTOR VII DEFICIENCY; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MUTATION;

EID: 48749114995     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12567     Document Type: Letter

References (12)

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