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 journalArticle

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 journalArticle

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, 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.
@article{6fd82aa146584730a0c4c9868197c05a,
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.",
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 Haig Kazazian and Lavergne, {J. M.} and F. Giannelli and Antonarakis, {S. E.} and Cooper, {D. N.}",
year = "1994",
month = "11",
day = "11",
doi = "10.1093/nar/22.22.4851",
language = "English (US)",
volume = "22",
pages = "4851--4868",
journal = "Nucleic Acids Research",
issn = "1362-4962",
publisher = "Oxford University Press",
number = "22",

}

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, Haig

AU - Lavergne, J. M.

AU - Giannelli, F.

AU - Antonarakis, S. E.

AU - Cooper, D. N.

PY - 1994/11/11

Y1 - 1994/11/11

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.

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.

UR - http://www.scopus.com/inward/record.url?scp=18844473167&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18844473167&partnerID=8YFLogxK

U2 - 10.1093/nar/22.22.4851

DO - 10.1093/nar/22.22.4851

M3 - Article

VL - 22

SP - 4851

EP - 4868

JO - Nucleic Acids Research

JF - Nucleic Acids Research

SN - 1362-4962

IS - 22

ER -