Article
Haemophilia B Liverpool: a new British family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter.
British journal of haematology - 1 Sept 1993
Stowell K M, Figueiredo M S, Brownlee G G, Jones P, Bolton-Maggs P H
Abstract excerpt
We report a Lancashire family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter. This mutation has been reported previously in Britain in one other affected family. The factor IX haplotype of these two unrelated patients was determined by PCR analysis of seven...
Topics
- Base Sequence
- DNA
- Electrophoresis, Agar Gel
- Factor IX
- Hemophilia B
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Promoter Regions, Genetic
- United Kingdom