Homozygous 2bp deletion in the human factor VII gene: A non-lethal mutation that is associated with a complete absence of circulating factor VII

Thrombosis and Haemostasis

Volumn 84, Issue 4, 2000, Pages 635-637

  Peyvandi, F ^a   Mannucci, P M ^a   Jenkins, P V ^a   Lee, A ^a   Coppola, R ^a   Perry, D J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Deletion; FVII; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR CONCENTRATE; FRESH FROZEN PLASMA; NUCLEOTIDE;

ARTICLE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD COMPONENT THERAPY; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; EXON; GASTROINTESTINAL HEMORRHAGE; GENE DELETION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; LETHAL MUTANT; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033786967     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1614079     Document Type: Article

References (14)

1. Isolation and characterization of human factor VII. Activation of factor VII by factor Xa
2. Characterization of a cDNA coding for human factor VII
3. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation
4. The structural biology of expression and function of tissue factor
5. Cell biology of tissue factor, the principal initiator of blood coagulation
6. Hereditary factor VII deficiency: Heterogeneity defined by combined functional and immunochemical analysis
7. Clinical manifestations in 28 Italian and Iranian patients with severe factor VII deficiency
8. Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency
9. Factor VII clotting assays: Influence of different thromboplastins and factor VII deficient plasmas
10. Enzyme-linked immunosorbent assay of human factor VII based upon a monoclonal antibody that recognizes the native conformation of the protein
11. Isolation and expression of cDNAs encoding human factor VII
12. Mice lacking factor VII develop normally but suffer fatal perinatal bleeding
13. Reading-frame restoration with an apolipoprotein B gene frameshift mutation
14. Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene