Article
Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein.
Human genetics - 1 Dec 1997
Schwaab R, Oldenburg J, Lalloz M R, Schwaab U, Pemberton S, Hanfland P, Brackmann H H, Tuddenham E G, Michaelides K
Abstract excerpt
Screening of the factor VIII (FVIII) gene which spans 186 kb and codes for 26 exons, was originally hampered by its size but is now feasible because rapid DNA scanning methodologies have been developed. The present study for the first time directly compares the three most widely applied screening...
Topics
- Computer Simulation
- DNA Mutational Analysis
- Electrophoresis
- Factor VIII
- Hemophilia A
- Humans
- Models, Molecular
- Mutation
- Nucleic Acid Denaturation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Sensitivity and Specificity
- Sequence Analysis, DNA