Article
Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis.
Human genetics - 1 Feb 1992
Fraser B M, Poon M C, Hoar D I
Abstract excerpt
The molecular characterization of two haemophilia B defects, Calgary 1 and Calgary 2, was carried out using polymerase chain reaction (PCR) amplification and direct dideoxy sequencing. It had been previously shown that the Calgary 1 mutation affects the 5' TaqI restriction site of exon VIII, wher...
Topics
- Base Sequence
- Computer Simulation
- DNA
- Factor IX
- Hemophilia A
- Humans
- Models, Structural
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- Restriction Mapping