Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations.

Abstract excerpt

Hemophilia B (HB) is an X-linked recessive disorder characterized by mutations in the clotting factor IX (FIX) gene that result in FIX deficiency. Previous studies have shown a wide variation of FIX gene mutations in HB. Although the quality of life in HB has greatly improved mainly because of prophylactic replacement therapy with FIX concentrates, there exists a significant burden on affected families and the...

Topics

• Amino Acid Sequence
• Base Sequence
• Chromatography, High Pressure Liquid
• DNA Mutational Analysis
• Factor IX
• Female
• Hemophilia B
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Nucleic Acid Denaturation
• Phenotype