Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition
Open Access
- 1 September 1994
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 22 (17), 3511-3533
- https://doi.org/10.1093/nar/22.17.3511
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.Keywords
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