Article
Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
Human genetics - 1 Sept 1994
Aguilar-Martinez P, Romey M C, Schved J F, Gris J C, Demaille J, Claustres M
Abstract excerpt
The search for mutations of the factor IX gene responsible for haemophilia B should nowadays be used routinely for the molecular diagnosis of this inherited disorder, i.e. carrier detection and prenatal diagnosis. A number of methodologies have been proposed, most of them being delicate or expens...
Topics
- DNA Mutational Analysis
- DNA, Single-Stranded
- Electrophoresis, Agar Gel
- Factor IX
- Genetic Carrier Screening
- Haplotypes
- Hemophilia B
- Humans
- Immunoenzyme Techniques
- Mutation
- Nucleic Acid Conformation
- Polymerase Chain Reaction
- Polymorphism, Genetic