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Article

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

Nucleic acids research - 11 Nov 1994

Tuddenham E G, Schwaab R, Seehafer J, Millar D S, Gitschier J, Higuchi M, Bidichandani S, Connor J M, Hoyer L W, Yoshioka A

Abstract excerpt

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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Identifiers

PMID: 7984443
DOI: 10.1093/nar/22.22.4851
PMCID: PMC308545

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