Literature DB >> 1559571

A novel deletion of FVIII gene associated with variable levels of FVIII inhibitor.

M S Figueiredo1, F Bernardi, M A Zago.   

Abstract

We describe a novel gross deletion of the factor VIII gene in 5 related patients with severe hemophilia A. The deletion extends from intron 15 to at least 8.5 kb beyond the 3' end of the gene (at least 95 kb of extension), and is associated with variable levels of FVIII inhibitor in 4 of the patients. The carrier detection in the family was based on the abnormal restriction pattern of the partially deleted gene.

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Year:  1992        PMID： 1559571     DOI： 10.1111/j.1600-0609.1992.tb00587.x

Source DB:  PubMed          Journal:  Eur J Haematol        ISSN： 0902-4441            Impact factor:   2.997


  4 in total

1.  Large DNA inversions, deletions, and TaqI site mutations in severe haemophilia A.

Authors:  M S Figueiredo; M H Tavella; B P Simões
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

2.  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

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:  1994-11-11       Impact factor: 16.971

Review 4.  Factor VIII inhibitors: risk factors and methods for prevention and immune modulation.

Authors:  Ai Hong Zhang; Jonathan Skupsky; David W Scott
Journal:  Clin Rev Allergy Immunol       Date:  2009-10       Impact factor: 8.667
  4 in total

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