The Missense Mutation Arg593 → Cys Is Related to Antibody Formation in a Patient With Mild Hemophilia A
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References (44)
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1989 • 3,557 citations
Molecular cloning of a cDNA encoding human antihaemophilic factor
1984 • 937 citations
Structure of human factor VIII
1984 • 898 citations
Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs
1992 • 613 citations
Acquired inhibitors of blood coagulation.
1972 • 531 citations
A More Uniform Measurement of Factor VIII Inhibitors
1975 • 498 citations
Recombinant Factor VIII for the Treatment of Previously Untreated Patients with Hemophilia A -- Safety, Efficacy, and Development of Inhibitors
1993 • 482 citations
Hemophilia A
1994 • 348 citations
Haemophilia A: Mutation Type Determines Risk of Inhibitor Formation
1995 • 336 citations
A More Uniform Measurement of Factor VIII Inhibitors
1975 • 316 citations
Recombinant Factor VIII for the Treatment of Previously Untreated Patients with Hemophilia A
1993 • 183 citations
Some factor VIII inhibitor antibodies recognize a common epitope corresponding to C2 domain amino acids 2248 through 2312, which overlap a phospholipid-binding site
1995 • 181 citations
The natural history of factor VIII:C inhibitors in patients with hemophilia A: a national cooperative study. II. Observations on the initial development of factor VIII:C inhibitors
1988 • 171 citations
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition
1994 • 156 citations
Detection of the Carrier State in Hereditary Coagulation Disorders I
1968 • 148 citations
Localization of human factor FVIII inhibitor epitopes to two polypeptide fragments.
1985 • 144 citations
Residues 484-508 Contain a Major Determinant of the Inhibitory Epitope in the A2 Domain of Human Factor VIII
1995 • 137 citations
Prevalence of Inhibitors in a Population of 3435 Hemophilia Patients in France
1992 • 135 citations
Molecular etiology of factor VIII deficiency in hemophilia A
1995 • 131 citations
Localization of epitopes for human factor VIII inhibitor antibodies by immunoblotting and antibody neutralization
1989 • 130 citations
Circulating anticoagulants to factor VIII
1970 • 130 citations
Epitope mapping of human factor VIII inhibitor antibodies by deletion analysis of factor VIII fragments expressed in Escherichia coli.
1988 • 122 citations
Acquired Circulating Anticoagulants in Hemophilia A
1969 • 108 citations
Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A)
1995 • 71 citations
Incidence of Factor VIII Inhibitor Development in Hemophilia A Patients Treated with Less Pure Plasma Derived Concentrates
1994 • 69 citations
Inhibition of human coagulation factor VIII by monoclonal antibodies. Mapping of functional epitopes with the use of recombinant factor VIII fragments
1989 • 65 citations
Inhibitors to Factor VIII in a Family with Mild Hemophilia: Molecular Characterization and Response to Factor VIII and Desmopressin
1995 • 55 citations
A Soluble Recombinant Factor VIII Fragment Containing the A2 Domain Binds to Some Human Anti-Factor VIII Antibodies that Are not Detected by Immunoblotting
1992 • 51 citations
Immunoblot analysis shows changes in factor VIII inhibitor chain specificity in factor VIII inhibitor patients over time
1988 • 47 citations
Acquired factor VIII inhibitor associated with chronic interferon‐alpha therapy in a patient with haemophilia A
1994 • 46 citations
Screening for mutations in haemophilia A patients by multiplex PCR‐SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients
1995 • 43 citations
WHY DO SO MANY HAEMOPHILIA A PATIENTS DEVELOP AN INHIBITOR?
1995 • 38 citations
Biological activity of recombinant factor VIII variants lacking the central B‐domain and the heavy‐chain sequence Lys713‐Arg740: discordant in vitro and in vivo activity
1993 • 30 citations
Inhibitor of Factor VIII in Mild Haemophilia
1969 • 30 citations
Inhibitor to Factor VIII in Mild Haemophilia
1984 • 29 citations
Acute myocardial infarction complicating prothrombin complex concentrate therapy in an 8-year-old boy with hemophilia A and factor VIII inhibitor.
1993 • 24 citations
Factor VIII antibody in a patient with mild haemophilia
1985 • 19 citations
Successful treatment with prothrombin complex concentrate of postoperative bleeding in a haemophiliac with a factor VIII inhibitor.
1976 • 19 citations
A Factor VIII Inhibitor in a Mild Hemophiliac
1970 • 14 citations
Molecular etiology of factor VIII deficiency in hemophilia A
1995 • 11 citations
Factor VIII Inhibitor in a Patient with Mild Hemophilia A
1972 • 11 citations
The natural history of factor VIII:C inhibitors in patients with hemophilia A: a national cooperative study. II. Observations on the initial development of factor VIII:C inhibitors
1988 • 7 citations
Frequency of inhibitors in haemophiliacs
1992 • 6 citations
Deleted Work
1955 • 0 citations