Article
Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.
British journal of haematology - 1 Jul 1991
Green P M, Montandon A J, Ljung R, Bentley D R, Nilsson I M, Kling S, Giannelli F
Abstract excerpt
Carrier and prenatal diagnosis based on the identification of the gene defect (direct diagnosis) increases the proportion of haemophilia B families that can be offered precise genetic counselling from the 50-60% attainable by DNA markers, to 100% and they also provide information on the molecular biology of the disease. We propose that in order to maximize the practical and scientific benefits of direct diagnosis...
Topics
- Base Sequence
- DNA
- DNA Mutational Analysis
- Databases, Factual
- Factor IX
- Female
- Genetic Counseling
- Genetic Testing
- Hemophilia B
- Humans
- Male