Article
Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.
Proceedings of the National Academy of Sciences of the United States of America - 15 Aug 1991
Higuchi M, Kazazian H H, Kasch L, Warren T C, McGinniss M J, Phillips J A, Kasper C, Janco R, Antonarakis S E
Abstract excerpt
Hemophilia A is an X chromosome-linked disorder resulting from deficiency of factor VIII, an important protein in blood coagulation. A large number of disease-producing mutations have been reported in the factor VIII gene. However, a comprehensive analysis of the mutations has been difficult because of the large gene size, its many scattered exons, and the high frequency of de novo mutations. Recently, we have...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Codon
- Computers
- DNA
- Exons
- Factor VIII
- Genes
- Haplotypes
- Hemophilia A