Haemophilia A

Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

E. G D Tuddenham, R. Schwaab, J. Seehafer, D. S. Millar, J. Gitschier, M. Higuchi, S. Bidichandani, J. M. Connor, L. W. Hoyer, A. Yoshioka, I. R. Peake, K. Olek, Haig Kazazian, J. M. Lavergne, F. Giannelli, S. E. Antonarakis, D. N. Cooper

Research output: Contribution to journal › Article

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.

Original languageEnglish (US)
Pages (from-to)4851-4868
Number of pages18
JournalNucleic Acids Research
Volume22
Issue number22
DOIs
StatePublished - Nov 11 1994

Fingerprint

Factor VIII
Hemophilia A
Nucleotides
Rearrangement
Deletion
Insertion
Substitution
Mutation
Substitution reactions
Genes
Databases
Gene
Compilation
Base Pairing
Proportion
Haemophilia
Factors
Data base
Review

ASJC Scopus subject areas

  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Health, Toxicology and Mutagenesis
  • Toxicology
  • Genetics(clinical)
  • Genetics

Cite this

Tuddenham, E. G. D., Schwaab, R., Seehafer, J., Millar, D. S., Gitschier, J., Higuchi, M., ... Cooper, D. N. (1994). Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Research, 22(22), 4851-4868. https://doi.org/10.1093/nar/22.22.4851

Haemophilia A : Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. / Tuddenham, E. G D; Schwaab, R.; Seehafer, J.; Millar, D. S.; Gitschier, J.; Higuchi, M.; Bidichandani, S.; Connor, J. M.; Hoyer, L. W.; Yoshioka, A.; Peake, I. R.; Olek, K.; Kazazian, Haig; Lavergne, J. M.; Giannelli, F.; Antonarakis, S. E.; Cooper, D. N.

In: Nucleic Acids Research, Vol. 22, No. 22, 11.11.1994, p. 4851-4868.

Research output: Contribution to journal › Article

Tuddenham, EGD, Schwaab, R, Seehafer, J, Millar, DS, Gitschier, J, Higuchi, M, Bidichandani, S, Connor, JM, Hoyer, LW, Yoshioka, A, Peake, IR, Olek, K, Kazazian, H, Lavergne, JM, Giannelli, F, Antonarakis, SE & Cooper, DN 1994, 'Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition', Nucleic Acids Research, vol. 22, no. 22, pp. 4851-4868. https://doi.org/10.1093/nar/22.22.4851
Tuddenham EGD, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M et al. Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Research. 1994 Nov 11;22(22):4851-4868. https://doi.org/10.1093/nar/22.22.4851
Tuddenham, E. G D ; Schwaab, R. ; Seehafer, J. ; Millar, D. S. ; Gitschier, J. ; Higuchi, M. ; Bidichandani, S. ; Connor, J. M. ; Hoyer, L. W. ; Yoshioka, A. ; Peake, I. R. ; Olek, K. ; Kazazian, Haig ; Lavergne, J. M. ; Giannelli, F. ; Antonarakis, S. E. ; Cooper, D. N. / Haemophilia A : Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. In: Nucleic Acids Research. 1994 ; Vol. 22, No. 22. pp. 4851-4868.
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