Article
Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.
Human mutation - 1 Jan 1992
Diamond C, Kogan S, Levinson B, Gitschier J
Abstract excerpt
Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. To efficiently find missense mutations, hemophiliacs with mild and moderately severe forms of the disease were surveyed. DNA samples from affected individuals were assayed for mutations by denaturing gradient gel electrophoresis...
Topics
- Amino Acid Sequence
- Base Sequence
- Conserved Sequence
- DNA
- DNA Mutational Analysis
- DNA Probes
- Factor VIII
- Hemophilia A
- Humans
- Male
- Molecular Sequence Data