Literature DB >> 1357455

Factor VIII gene explains all cases of haemophilia A.

J A Naylor1, P M Green, C R Rizza, F Giannelli.   

Abstract

Using an mRNA-based method to examine haemophilia A mutations we provide an explanation for the puzzling report that half of the mutations causing severe disease are not detected by analysis of the putative promoter, exons, and most exon/intron boundaries of the factor VIII gene. An unusual cluster of mutations involving regions of intron 22 not examined earlier leads to defective joining of exons 22 and 23 in the mRNA and caused haemophilia A in 10/24 severely affected UK patients.

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Year:  1992        PMID： 1357455     DOI： 10.1016/0140-6736(92)93080-7

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  8 in total

Review 1.  Haemophilia.

Authors:  M R Cahill; B T Colvin
Journal:  Postgrad Med J       Date:  1997-04       Impact factor: 2.401

2.  Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A.

Authors:  Richard D Bagnall; Karen L Ayres; Peter M Green; Francesco Giannelli
Journal:  Genome Res       Date:  2005-02       Impact factor: 9.043

3.  Inverted low-copy repeats and genome instability--a genome-wide analysis.

Authors:  Piotr Dittwald; Tomasz Gambin; Claudia Gonzaga-Jauregui; Claudia M B Carvalho; James R Lupski; Paweł Stankiewicz; Anna Gambin
Journal:  Hum Mutat       Date:  2012-10-11       Impact factor: 4.878

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:  1994-09       Impact factor: 16.971

5.  A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Authors:  Q Lin; J Rohrer; R C Allen; M Larché; J M Greene; A O Shigeoka; R A Gatti; D C Derauf; J W Belmont; M E Conley
Journal:  J Clin Invest       Date:  1996-01-01       Impact factor: 14.808

6.  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

7.  Inversions of the factor VIII gene in Japanese patients with severe hemophilia A.

Authors:  Kazuyoshi Fukuda; Hiroyuki Naka; Shogo Morichika; Masaru Shibata; Ichiro Tanaka; Midori Shima; Akira Yoshioka
Journal:  Int J Hematol       Date:  2004-04       Impact factor: 2.490

8.  Genetic analysis of haemophilia A in Bulgaria.

Authors:  Rumena Petkova; Stoian Chakarov; Ivo Kremensky
Journal:  BMC Blood Disord       Date:  2004-03-18
  8 in total

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