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/22.17.3511

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

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

78 Scopus citations

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.

Original language	English (US)
Pages (from-to)	3511-3533
Number of pages	23
Journal	Nucleic acids research
Volume	22
Issue number	17
DOIs	https://doi.org/10.1093/nar/22.17.3511
State	Published - Sep 1994
Externally published	Yes

ASJC Scopus subject areas

Genetics

Access to Document

10.1093/nar/22.17.3511

Cite this

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(17), 3511-3533. https://doi.org/10.1093/nar/22.17.3511

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. 17, pp. 3511-3533. https://doi.org/10.1093/nar/22.17.3511

@article{22cf38b755544943beccd9e767f10ab9,

title = "Haemophilia a: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition",

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.",

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

year = "1994",

month = sep,

doi = "10.1093/nar/22.17.3511",

language = "English (US)",

volume = "22",

pages = "3511--3533",

journal = "Nucleic acids research",

issn = "0305-1048",

publisher = "Oxford University Press",

number = "17",

}

TY - JOUR

T1 - Haemophilia a

T2 - Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

AU - Tuddenham, E. G.D.

AU - Schwaab, R.

AU - Seehafer, J.

AU - Millar, D. S.

AU - Gitschier, J.

AU - Higuchi, M.

AU - Bidichandani, S.

AU - Connor, J. M.

AU - Hoyer, L. W.

AU - Yoshioka, A.

AU - Peake, I. R.

AU - Olek, K.

AU - Kazazian, H. H.

AU - Lavergne, J. M.

AU - Giannelli, F.

AU - Antonarakis, S. E.

AU - Cooper, D. N.

PY - 1994/9

Y1 - 1994/9

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0028031538&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028031538&partnerID=8YFLogxK

U2 - 10.1093/nar/22.17.3511

DO - 10.1093/nar/22.17.3511

M3 - Article

C2 - 7937051

AN - SCOPUS:0028031538

SN - 0305-1048

VL - 22

SP - 3511

EP - 3533

JO - Nucleic acids research

JF - Nucleic acids research

IS - 17

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this