Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Genomic sequencing.

1984 • 8,343 citations

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

Characterization of the human factor VIII gene

1984 • 983 citations

An electrophoretic karyotype for yeast.

1985 • 787 citations

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1986 • 468 citations

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1992 • 385 citations

Latent and Replicating Forms of Epstein-Barr Virus DNA in Lymphomas and Lymphoproliferative Diseases

1989 • 208 citations

A transcribed gene in an intron of the human factor VIII gene

1990 • 182 citations

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

1990 • 168 citations

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.

1991 • 162 citations

DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.

1987 • 154 citations

Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United Kingdom.

1983 • 139 citations

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

1991 • 137 citations

Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1993 • 123 citations

Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

1991 • 120 citations

Evidence for a third transcript from the human factor VIII gene

1992 • 108 citations

Major rearrangement in the human β-globin gene cluster

1981 • 82 citations

Chromosomal Rearrangements and Protein Structure

1964 • 76 citations

A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus.

1992 • 58 citations

Hemoglobins Lepore and Anti-Lepore

1978 • 57 citations

A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.

1989 • 36 citations

A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia

1992 • 23 citations

A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia

1992 • 22 citations

An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767).

1989 • 20 citations