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; H. H. Kazazian; J. M. Lavergne; F. Giannelli; S. E. Antonarakis; D. N. Cooper

doi:10.1093/nar/22.22.4851

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, H. H. Kazazian, J. M. Lavergne, F. Giannelli, S. E. Antonarakis, D. N. Cooper

School of Medicine

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	4851-4868
Number of pages	18
Journal	Nucleic acids research
Volume	22
Issue number	22
DOIs	https://doi.org/10.1093/nar/22.22.4851
State	Published - Nov 11 1994

ASJC Scopus subject areas

Genetics

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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, H. H., Lavergne, J. M., Giannelli, F., Antonarakis, S. E., & 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, H. H.; 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 › peer-review

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, HH, 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, 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, H. H. ; 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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