Literature DB >> 7937051

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

E G Tuddenham1, R Schwaab, J Seehafer, D S Millar, J Gitschier, M Higuchi, S Bidichandani, J M Connor, L W Hoyer, A Yoshioka.   

Abstract

A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.

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Year:  1994        PMID： 7937051      PMCID： PMC308313          DOI： 10.1093/nar/22.17.3511

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  90 in total

1.  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.

Authors:  M Arai; M Higuchi; S E Antonarakis; H H Kazazian; J A Phillips; R L Janco; L W Hoyer
Journal:  Blood       Date:  1990-01-15       Impact factor: 22.113

2.  A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.

Authors:  V Chan; T K Chan; T M Tong; D Todd
Journal:  Blood       Date:  1989-12       Impact factor: 22.113

Review 3.  A deletion involving intron 13 and exon 14 of factor VIII gene in a haemophiliac with anti-factor VIII antibody.

Authors:  S Mikami; T Nishimura; H Naka; K Kuze; H Fukui
Journal:  Jinrui Idengaku Zasshi       Date:  1988-12

Review 4.  Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody.

Authors:  S Mikami; T Nishimura; H Naka; K Kuze; H Fukui; M Tone; T Hashimoto-Gotoh
Journal:  Jinrui Idengaku Zasshi       Date:  1988-12

5.  Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis.

Authors:  M Higuchi; L Kochhan; R Schwaab; H Egli; H H Brackmann; J Horst; K Olek
Journal:  Blood       Date:  1989-08-15       Impact factor: 22.113

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

Authors:  M Shima; J Ware; A Yoshioka; H Fukui; C A Fulcher
Journal:  Blood       Date:  1989-10       Impact factor: 22.113

7.  Partial deletions of factor VIII gene as molecular diagnostic markers in haemophilia A.

Authors:  M Wehnert; F H Herrmann; K Wulff
Journal:  Dis Markers       Date:  1989 Apr-Jun       Impact factor: 3.434

8.  Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene.

Authors:  G R Cutting; S E Antonarakis; H Youssoufian; H H Kazazian
Journal:  Mol Biol Med       Date:  1988-12

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

Authors:  H Inaba; M Fujimaki; H H Kazazian; S E Antonarakis
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

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

Authors:  M Arai; H Inaba; M Higuchi; S E Antonarakis; H H Kazazian; M Fujimaki; L W Hoyer
Journal:  Proc Natl Acad Sci U S A       Date:  1989-06       Impact factor: 11.205
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  7 in total

1.  Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.

Authors:  M Young; H Inaba; L W Hoyer; M Higuchi; H H Kazazian; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

2.  Improvements to the GDB Human Genome Data Base.

Authors:  K H Fasman; S I Letovsky; R W Cottingham; D T Kingsbury
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

3.  Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.

Authors:  S I Bidichandani; W G Lanyon; C R Shiach; G D Lowe; J M Connor
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

4.  Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Authors:  J Becker; R Schwaab; A Möller-Taube; U Schwaab; W Schmidt; H H Brackmann; T Grimm; K Olek; J Oldenburg
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

5.  Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A.

Authors:  J Voorberg; R T de Laaf; P M Koster; J A van Mourik
Journal:  Biochem J       Date:  1996-09-15       Impact factor: 3.857

6.  Site-specific labeling of T7 DNA polymerase with a conformationally sensitive fluorophore and its use in detecting single-nucleotide polymorphisms.

Authors:  Yu-Chih Tsai; Zhinan Jin; Kenneth A Johnson
Journal:  Anal Biochem       Date:  2008-09-14       Impact factor: 3.365

7.  microRNAs and genetic diseases.

Authors:  Nicola Meola; Vincenzo Alessandro Gennarino; Sandro Banfi
Journal:  Pathogenetics       Date:  2009-11-04
  7 in total

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