Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
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.
Tuddenham
E G
EG
Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Schwaab
R
R
Seehafer
J
J
Millar
D S
DS
Gitschier
J
J
Higuchi
M
M
Bidichandani
S
S
Connor
J M
JM
Hoyer
L W
LW
Yoshioka
A
A
D001483:Base Sequence; D007446:Chromosome Inversion; D004251:DNA Transposable Elements; D016208:Databases, Factual; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D015321:Gene Rearrangement; D008040:Genetic Linkage; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D017384:Sequence Deletion; D012744:Sex Ratio
D004251:DNA Transposable Elements; D009838:Oligodeoxyribonucleotides; D005169:Factor VIII