Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

1988 • 883 citations

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1987 • 514 citations

Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders

1988 • 405 citations

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1986 • 277 citations

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

1985 • 198 citations

Studies on the Nature of the Circulating Anticoagulant Directed against Antihemophilic Factor: With Notes on an Assay for Antihemophilic Factor

1962 • 183 citations

Proteolytic requirements for thrombin activation of anti-hemophilic factor (factor VIII).

1988 • 170 citations

Immunologic studies of antihemophilic factor (AHF, factor VIII). IV. Radioimmunoassay of AHF antigen.

1972 • 169 citations

Immunoradiometric measurement of the factor VIII procoagulant antigen.

1978 • 164 citations

Immunologic Studies of Antihemophilic Factor (AHF, Factor VIII): Cross-Reacting Material in a Genetic Variant of Hemophilia A

1968 • 143 citations

Thrombin proteolysis of purified factor viii procoagulant protein: correlation of activation with generation of a specific polypeptide

1983 • 123 citations

Characterization of five partial deletions of the factor VIII gene.

1987 • 103 citations

The effect of thrombin on human factor VIII. Cleavage of the factor VIII procoagulant protein during activation.

1981 • 91 citations

Mutations of factor VIII cleavage sites in hemophilia A

1988 • 87 citations

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

1989 • 79 citations

The molecular basis of hemophilia A in man

1988 • 68 citations

Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A

1989 • 38 citations

Factor VIII coagulant antigen in hemophilic plasma: a comparison of five alloantibodies

1980 • 25 citations