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. 1994 Sep;22(17):3511-33.
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 Tuddenham  1 , R Schwaab, J Seehafer, D S Millar, J Gitschier, M Higuchi, S Bidichandani, J M Connor, L W Hoyer, A Yoshioka, et al.
Affiliations
Free PMC article

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

E G Tuddenham et al. Nucleic Acids Res. 1994 Sep.
Free PMC article

Corrected and republished in

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.

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