Article
Factor IXHollywood: substitution of Pro55 by Ala in the first epidermal growth factor-like domain.
Blood - 15 Oct 1990
Spitzer S G, Kuppuswamy M N, Saini R, Kasper C K, Birktoft J J, Bajaj S P
Abstract excerpt
Factor IX is a multidomain protein essential for hemostasis. We describe a mutation in a patient affecting the first epidermal growth factor (EGF)-like domain of the protein. All exons and the promoter region of the gene were amplified by the polymerase chain reaction method, and sequenced. Only...
Topics
- Alanine
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA Restriction Enzymes
- Deoxyribonucleases, Type II Site-Specific
- Epidermal Growth Factor
- Exons
- Factor IX
- Factor IXa
- Genetic Markers
- Hemophilia A
- Humans
- Molecular Sequence Data
- Mutation
- Partial Thromboplastin Time
- Polymerase Chain Reaction
- Proline