Article
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
Human genetics - 1 May 1992
Jacobson D R, McFarlin D E, Kane I, Buxbaum J N
Abstract excerpt
Mutations in the protein transthyretin cause amyloidosis involving the heart, peripheral nerves, and other organs. A family from West Virginia developed an unusually aggressive form of widespread transthyretin amyloidosis. Single-strand conformation polymorphism analysis revealed a variant in the...
Topics
- Amyloidosis
- Base Sequence
- Cardiomyopathies
- Cell Line, Transformed
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Pedigree
- Peripheral Nervous System Diseases
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prealbumin
- Proline