Article
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.
Nature genetics - 1 Nov 1993
Lakich D, Kazazian H H, Antonarakis S E, Gitschier J
Abstract excerpt
Mutations in the factor VIII gene have been discovered for barely more than half of the examined cases of severe haemophilia A. To account for the unidentified mutations, we propose a model based on the possibility of recombination between homologous sequences located in intron 22 and upstream of...
Topics
- Base Sequence
- Blotting, Southern
- Cell Line, Transformed
- Chromosome Inversion
- DNA Primers
- Exons
- Factor VIII
- Hemophilia A
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Recombination, Genetic