Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

The structure and evolution of the human β-globin gene family

1980 • 1,398 citations

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

1989 • 1,295 citations

Characterization of the human factor VIII gene

1984 • 983 citations

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1987 • 944 citations

Molecular cloning of a cDNA encoding human antihaemophilic factor

1984 • 937 citations

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory.

1983 • 895 citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

1987 • 811 citations

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

Detection of Single Base Substitutions by Ribonuclease Cleavage at Mismatches in RNA:DNA Duplexes

1985 • 538 citations

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

1987 • 514 citations

[30] Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1987 • 491 citations

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

1991 • 357 citations

Progress in Hemostasis and Thrombosis.

1974 • 349 citations

The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

1990 • 285 citations

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1986 • 277 citations

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

1989 • 240 citations

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

1985 • 231 citations

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

1991 • 213 citations

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

1985 • 198 citations

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

1990 • 137 citations

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

1986 • 136 citations

Progress in Hemostasis and Thrombosis.

1983 • 124 citations

Characterization of five partial deletions of the factor VIII gene.

1987 • 103 citations

Mutations of factor VIII cleavage sites in hemophilia A

1988 • 87 citations

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

1990 • 84 citations

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

1989 • 79 citations

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

1990 • 77 citations

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene

1990 • 75 citations

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

1990 • 73 citations

The molecular basis of hemophilia A in man

1988 • 68 citations

An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule

1989 • 51 citations

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.

1990 • 41 citations

Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28: implications for factor VIII gene segregation analysis

1986 • 32 citations

Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.

1988 • 27 citations

Molecular Genetic Approaches to Neuropsychiatric Diseases

1991 • 10 citations