Article
Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample.
European journal of human genetics : EJHG - 1 Jan 1993
Ghanem N, Costes B, Martin J, Vidaud M, Rothschild C, Foyer-Gazengel C, Goossens M
Abstract excerpt
Full scanning of the factor IX gene by means of denaturing gradient gel electrophoresis enabled us to determine the molecular defects in 48 out of 49 hemophiliacs and to evaluate the spectrum of factor IX mutations in the French population. Our results further document the high molecular heteroge...
Topics
- Base Sequence
- DNA
- Electrophoresis
- Exons
- Factor IX
- France
- Genetic Markers
- Haplotypes
- Hemophilia B
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Promoter Regions, Genetic