title: Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
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.
authors.affiliation: Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London.
authors.forename: E G
authors.initials: EG
authors.lastname: Tuddenham
authors.forename: R
authors.initials: R
authors.lastname: Schwaab
authors.forename: J
authors.initials: J
authors.lastname: Seehafer
authors.forename: D S
authors.initials: DS
authors.lastname: Millar
authors.forename: J
authors.initials: J
authors.lastname: Gitschier
authors.forename: M
authors.initials: M
authors.lastname: Higuchi
authors.forename: S
authors.initials: S
authors.lastname: Bidichandani
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
authors.forename: L W
authors.initials: LW
authors.lastname: Hoyer
authors.forename: A
authors.initials: A
authors.lastname: Yoshioka
mesh_terms: D001483:Base Sequence; D007446:Chromosome Inversion; D016208:Databases, Factual; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D012737:Sex Factors
chemical_list: D005169:Factor VIII