Literature DB >> 2835307

Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor.

B Bardoni1, M Sampietro, M Romano, M Crapanzano, P M Mannucci, G Camerino.   

Abstract

Genomic DNA from 49 Italian patients affected with severe haemophilia A was analysed by Southern blotting technique using a cDNA probe corresponding to exons 14-26 of coagulation factor VIII. No TaqI site mutation was observed in this sample. A partial deletion, eliminating exons 15-18 and spanning about 13kb, was identified and characterized in one patient with anti-factor VIII antibodies.

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Year:  1988        PMID： 2835307     DOI： 10.1007/BF00291718

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.

Authors:  H Youssoufian; H H Kazazian; D G Phillips; S Aronis; G Tsiftis; V A Brown; S E Antonarakis
Journal:  Nature       Date:  1986 Nov 27-Dec 3       Impact factor: 49.962

2.  Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.

Authors:  J Gitschier; W I Wood; M A Shuman; R M Lawn
Journal:  Science       Date:  1986-06-13       Impact factor: 47.728

3.  Characterization of the human factor VIII gene.

Authors:  J Gitschier; W I Wood; T M Goralka; K L Wion; E Y Chen; D H Eaton; G A Vehar; D J Capon; R M Lawn
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

4.  Structure of human factor VIII.

Authors:  G A Vehar; B Keyt; D Eaton; H Rodriguez; D P O'Brien; F Rotblat; H Oppermann; R Keck; W I Wood; R N Harkins; E G Tuddenham; R M Lawn; D J Capon
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

5.  Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

Authors:  G Camerino; K H Grzeschik; M Jaye; H De La Salle; P Tolstoshev; J P Lecocq; R Heilig; J L Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  1984-01       Impact factor: 11.205

6.  Characterization of five partial deletions of the factor VIII gene.

Authors:  H Youssoufian; S E Antonarakis; S Aronis; G Tsiftis; D G Phillips; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1987-06       Impact factor: 11.205

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

Authors:  J Gitschier; W I Wood; E G Tuddenham; M A Shuman; T M Goralka; E Y Chen; R M Lawn
Journal:  Nature       Date:  1985 May 30-Jun 5       Impact factor: 49.962

8.  Expression of active human factor VIII from recombinant DNA clones.

Authors:  W I Wood; D J Capon; C C Simonsen; D L Eaton; J Gitschier; B Keyt; P H Seeburg; D H Smith; P Hollingshead; K L Wion; E Delwart; E G Tuddenham; G A Vehar; R M Lawn
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

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

Authors:  S E Antonarakis; P G Waber; S D Kittur; A S Patel; H H Kazazian; M A Mellis; R B Counts; G Stamatoyannopoulos; E J Bowie; D N Fass
Journal:  N Engl J Med       Date:  1985-10-03       Impact factor: 91.245
  9 in total
  4 in total

1.  The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene.

Authors:  D S Millar; R A Steinbrecher; K Wieland; C B Grundy; U Martinowitz; M Krawczak; B Zoll; D Whitmore; J Stephenson; R S Mibashan
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

2.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

Authors:  E G Tuddenham; D N Cooper; J Gitschier; M Higuchi; L W Hoyer; A Yoshioka; I R Peake; R Schwaab; K Olek; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

3.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

4.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-11-11       Impact factor: 16.971
  4 in total

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