Article
Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.
American journal of human genetics - 1 Oct 1991
Bottema C D, Ketterling R P, Ii S, Yoon H S, Phillips J A, Sommer S S
Abstract excerpt
We report 31 point mutations in the factor IX gene and explore the relationship between the level of evolutionary conservation of an amino acid and the probability of a mutation causing hemophilia B. From our total sample of 125 hemophiliacs and from those reported by others, we identify 95 indep...
Topics
- Amino Acid Sequence
- Amino Acids
- Animals
- Binding Sites
- Biological Evolution
- Factor IX
- Female
- Haplotypes
- Hemophilia B
- Humans
- Male
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Polymorphism, Restriction Fragment Length