Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. |
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| Authors: | E G Tuddenham R Schwaab J Seehafer D S Millar J Gitschier M Higuchi S Bidichandani J M Connor L W Hoyer and A Yoshioka |
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| 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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