Article
Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter.
Science (New York, N.Y.) - 17 Jul 1992
Crossley M, Ludwig M, Stowell K M, De Vos P, Olek K, Brownlee G G
Abstract excerpt
One form of the inherited, X-linked, bleeding disorder, hemophilia B, resolves after puberty. Mutations at -20 and -26 in the clotting factor IX promoter impair transcription by disrupting the binding site for the liver-enriched transcription factor LF-A1/HNF4. The -26 but not the -20 mutation al...
Topics
- Base Sequence
- Binding Sites
- Binding, Competitive
- Cloning, Molecular
- Electrophoresis, Polyacrylamide Gel
- Factor IX
- Hemophilia B
- Humans
- Molecular Sequence Data
- Mutation
- Promoter Regions, Genetic
- Receptors, Androgen
- Sequence Homology, Nucleic Acid
- Transcription Factors
- Transcription, Genetic
- Transfection