Article
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Nucleic acids research - 1 Sept 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.
Topics
- Base Sequence
- Chromosome Inversion
- DNA Transposable Elements
- Databases, Factual
- Factor VIII
- Female
- Gene Deletion
- Gene Rearrangement
- Genetic Linkage
- Hemophilia A
- Humans
