Article
Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.
Nature - 31 May 1990
Crossley M, Brownlee G G
Abstract excerpt
Haemophilia B (or Christmas disease) is an inherited, X-linked bleeding disorder caused by mutations in the gene for clotting factor IX. There is a rare class of patients, exemplified by haemophilia B Leyden, who suffer from haemophilia B as children but improve after puberty. In these patients,...
Topics
- Age Factors
- Amino Acid Sequence
- Base Sequence
- CCAAT-Enhancer-Binding Proteins
- DNA-Binding Proteins
- Factor IX
- Gene Expression Regulation
- Hemophilia B
- Humans
- Male
- Molecular Sequence Data
- Mutation