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

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 p...

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Bibliographic Details
Published in:Nucleic acids research 1994-09, Vol.22 (17), p.3511-3533
Main Authors: 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.
Format: Article
Language:English
Subjects:
Base Sequence
Chromosome Inversion
Databases, Factual
DNA Transposable Elements
Factor VIII - genetics
Female
Gene Deletion
Gene Rearrangement
Genetic Linkage
Hemophilia A - genetics
Humans
Male
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Sequence Deletion
Sex Ratio
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Summary: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.
ISSN:0305-1048
1362-4962
DOI:10.1093/nar/22.17.3511