Article
Production and functional analysis of normal and variant recombinant human transthyretin proteins.
The Journal of biological chemistry - 15 Aug 1992
Murrell J R, Schoner R G, Liepnieks J J, Rosen H N, Moses A C, Benson M D
Abstract excerpt
The most common form of hereditary systemic amyloidosis is familial amyloidotic polyneuropathy associated with single amino acid changes in the plasma protein, transthyretin. In addition, there are two variants of transthyretin (Ser6 and Thr109) not associated with familial amyloidotic polyneuropathy but with familial euthyroid hyperthyroxinemia, also an autosomal dominant disorder. In these autosomal dominant...
Topics
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- Escherichia coli
- Genetic Variation
- Humans
- Kinetics
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction