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

Nature genetics, 1993-11, Vol.5 (3), p.236-241

1993

Volltextzugriff (PDF)

Allan Award Lecture: On Jumping Fields and “Jumping Genes”

American journal of human genetics, 2009-02, Vol.84 (2), p.105-114

Kazazian, Haig H.

2009

Volltextzugriff (PDF)

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

Nature (London), 1988-03, Vol.332 (6160), p.164-166

1988

Volltextzugriff (PDF)

Correlation between Factor VIII Genotype and Inhibitor Development in Hemophilia A

Seminars in thrombosis and hemostasis, 2000, Vol.26 (2), p.167-172

2000

Volltextzugriff (PDF)

Molecular etiology of factor VIII deficiency in hemophilia A

Human mutation, 1995, Vol.5 (1), p.1-22

1995

Volltextzugriff (PDF)

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Nature (London), 1986-11, Vol.324 (6095), p.380-382

1986

Volltextzugriff (PDF)

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

The New England journal of medicine, 1985-10, Vol.313 (14), p.842

1985

Volltextzugriff (PDF)

Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A

Genomics (San Diego, Calif.), 1993-02, Vol.15 (2), p.392-398

1993

Volltextzugriff (PDF)

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

Genomics (San Diego, Calif.), 1990, Vol.6 (1), p.65-71

1990

Volltextzugriff (PDF)

The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII

Blood, 1998-01, Vol.91 (2), p.538-548

1998

Volltextzugriff (PDF)

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

Proceedings of the National Academy of Sciences - PNAS, 1991-08, Vol.88 (16), p.7405-7409

1991

Volltextzugriff (PDF)

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

Blood, 1990-01, Vol.75 (2), p.384-389

1990

Volltextzugriff (PDF)

Hemophilia A Due to Mutations that Create New N-Glycosylation Sites

Proceedings of the National Academy of Sciences - PNAS, 1992-06, Vol.89 (11), p.4933-4937

1992

Volltextzugriff (PDF)

The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS

Nucleic acids research, 1996-01, Vol.24 (1), p.100

1996

Volltextzugriff (PDF)

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

Genomics (San Diego, Calif.), 1990-02, Vol.6 (2), p.293-301

1990

Volltextzugriff (PDF)

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)

Genomics (San Diego, Calif.), 1992-07, Vol.13 (3), p.909-911

1992

Volltextzugriff (PDF)

Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28

Genomics (San Diego, Calif.), 1993-04, Vol.16 (1), p.20-25

1993

Volltextzugriff (PDF)

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

Human genetics, 1989-03, Vol.81 (4), p.335-338

1989

Volltextzugriff (PDF)

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

Genomics (San Diego, Calif.), 1988, Vol.2 (1), p.32-36

1988

Volltextzugriff (PDF)

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

Allan Award Lecture: On Jumping Fields and “Jumping Genes”

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

Correlation between Factor VIII Genotype and Inhibitor Development in Hemophilia A

Molecular etiology of factor VIII deficiency in hemophilia A

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A

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

The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII

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

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

Hemophilia A Due to Mutations that Create New N-Glycosylation Sites

The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS

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

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)

Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

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