Characterization of five partial deletions of the factor VIII gene.

Organization and Expression of Eucaryotic Split Genes Coding for Proteins

1981 • 4,730 citations

Characterization of the human factor VIII gene

1984 • 983 citations

Molecular cloning of a cDNA encoding human antihaemophilic factor

1984 • 937 citations

Structure of human factor VIII

1984 • 898 citations

Expression of active human factor VIII from recombinant DNA clones

1984 • 699 citations

Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains

1985 • 453 citations

Report of the committee on the genetic constitution of the X and Y chromosomes

1985 • 369 citations

PARENTAL AGE AND MUTATION

1955 • 346 citations

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1986 • 277 citations

Unexpected relationships between four large deletions in the human β-globin gene cluster

1983 • 218 citations

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

1983 • 207 citations

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

1985 • 198 citations

Hemophilia A

1985 • 189 citations

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.

1986 • 168 citations

Immunoradiometric measurement of the factor VIII procoagulant antigen.

1978 • 164 citations

Genetic Screening for Hemophilia A (Classic Hemophilia) with a Polymorphic DNA Probe

1985 • 152 citations

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A

1986 • 136 citations

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.

1985 • 125 citations

A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin

1982 • 121 citations

The natural history of factor VIII inhibitors in patients with hemophilia A.

1984 • 85 citations

Identification of a Missense Mutation in the Factor VIII Gene of a Mild Hemophiliac

1986 • 83 citations

CARRIER DETECTION BY DIRECT GENE ANALYSIS IN A FAMILY WITH HAEMOPHILIA B (FACTOR IX DEFICIENCY)

1984 • 58 citations

Immunologic evidence that the antihemophilic factor (factor VIII)-like material in hemophilic plasma possesses a nonfunctional low molecular weight subcomponent

1977 • 17 citations