Article
Identification of seven novel mutations of F8C by DHPLC.
Human mutation - 1 Sept 2002
Frusconi Sabrina, Passerini Ilaria, Girolami Francesca, Masieri Maddalena, Linari Silvia, Longo Giovanni, Morfini Massimo, Torricelli Francesca
Abstract excerpt
Hemophilia A is an X-linked recessive disorder resulting from deficiency of Factor VIII (F8C), an important protein in blood coagulation. A large number of disease producing mutations have been reported in the F8C gene. However, a comprehensive analysis of mutations is difficult to conduct due to the large gene size, its many scattered exons, and the high frequency of de novo mutations. In this study, we...
Topics
- Amino Acid Sequence
- Chromatography, High Pressure Liquid
- DNA
- DNA Mutational Analysis
- Factor VIII
- Hemophilia A
- Humans
- Molecular Sequence Data
- Mutation
- Sequence Homology, Amino Acid