Article
Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
Human genetics - 1 Apr 1993
Vidaud D, Tartary M, Costa J M, Bahnak B R, Gispert-Sanchez S, Fressinaud E, Gazengel C, Meyer D, Goossens M, Lavergne J M
Abstract excerpt
Mutations in the promoter region of the factor IX gene result in hemophilia B Leyden, which is characterized by considerable improvement in the disease after puberty. We have found that distinct nucleotide substitutions at the -6 position in the Leyden-specific (LS) region are associated with a d...
Topics
- Adult
- Base Sequence
- Blotting, Southern
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA, Single-Stranded
- Factor IX
- Female
- Genetic Counseling
- Hemophilia B
- Humans
- Male
- Middle Aged