Article
Characterization of a basic transthyretin variant--TTR Arg 102--in the German population.
Biochimica et biophysica acta - 21 Oct 1991
Almeida M R, Altland K, Rauh S, Gawinowicz M, Moreira P, Costa P P, Saraiva M J
Abstract excerpt
A basic transthyretin (TTR) variant, apparently non-pathogenic, has been reported in a German family. Protein analysis of this TTR variant revealed the substitution of arginine for proline at position 102 of the TTR polypeptide chain. This result was confirmed by DNA analysis of PCR amplified DNA.
Topics
- Amyloidosis
- Arginine
- Base Sequence
- Exons
- Female
- Genetic Testing
- Genetic Variation
- Germany
- Humans
- Molecular Sequence Data
- Mutation
- Peptide Mapping
- Polymerase Chain Reaction
