Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

Molecular basis of base substitution hotspots in Escherichia coli

1978 • 1,185 citations

DNA methylation and the frequency of CpG in animal DNA

1980 • 1,146 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

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1984 • 586 citations

The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit β-globin DNA

1981 • 473 citations

Globin mRNA Sequences: Analysis of Base Pairing and Evolutionary Implications

1978 • 403 citations

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

1985 • 369 citations

DNA methylation: organ specific variations in the methylation pattern within and around ovalbumin and other chicken genes

1979 • 356 citations

A large region (approximately equal to 95 kDa) of human factor VIII is dispensable for in vitro procoagulant activity.

1986 • 314 citations

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

1983 • 277 citations

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1986 • 277 citations

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

1985 • 231 citations

The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

1985 • 204 citations

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

1985 • 198 citations

Hemophilia A

1985 • 189 citations

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position −4

1986 • 176 citations

Immunoradiometric measurement of the factor VIII procoagulant antigen.

1978 • 164 citations

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

1986 • 136 citations

A CLINICALLY USEFUL DNA PROBE CLOSELY LINKED TO HAEMOPHILIA A

1984 • 110 citations

Characterization of five partial deletions of the factor VIII gene.

1987 • 103 citations

Eukaryotic dinucleotide preference rules and their implications for degenerate codon usage

1981 • 94 citations

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

1986 • 83 citations

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

1985 • 76 citations

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

1987 • 57 citations

Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.

1985 • 55 citations

Molecular genetics of hemophilia A in man (factor VIII deficiency).

1987 • 39 citations

Antithrombin III Tours gene: Identification of a point mutation leading to an arginine—cysteine replacement in a silent deficiency

1986 • 29 citations