Article
Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).
Biochemical and biophysical research communications - 29 Jun 1990
Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S
Abstract excerpt
Two mutant genes coding for two different variants of transthyretin were identified in two independent kindreds with familial amyloidotic polyneuropathy. A single base change from A to G was identified in exon 2 of transthyretin gene in two brothers from the first kindred. This base change led to...
Topics
- Alleles
- Amyloidosis
- Base Sequence
- Humans
- Molecular Sequence Data
- Mutation
- Nervous System Diseases
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Prealbumin
- Restriction Mapping