Article
Haemophilia B Leyden: the effect of mutations at position +13 on the liver-specific transcription of the factor IX gene.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jun 1994
Reijnen M J, Maasdam D, Bertina R M, Reitsma P H
Abstract excerpt
Haemophilia B Leyden is characterized by low plasma levels (< or = 1-13% of normal) of blood coagulation factor IX during childhood. After the onset of puberty, plasma factor IX levels gradually rise, probably under the influence of androgens. Single point mutations have been detected in the fact...
Topics
- Base Sequence
- Carcinoma, Hepatocellular
- DNA-Binding Proteins
- Escherichia coli
- Factor IX
- Gene Deletion
- Hemophilia B
- Humans
- Liver
- Molecular Sequence Data
- Mutation
- Point Mutation
- Promoter Regions, Genetic
- Transcription Factors
- Transcription, Genetic
- Transfection
- Tumor Cells, Cultured