Article
A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.
Biochemical and biophysical research communications - 31 May 1990
Ueno S, Uemichi T, Yorifuji S, Tarui S
Abstract excerpt
A to G transversion was identified in exon 4 of transthyretin gene in familial amyloidotic polyneuropathy in two sibling cases living in Osaka. This transversion led to the replacement of tyrosine by cysteine residue at codon 114 of 127 residue molecule. This identification was achieved by random...
Topics
- Adult
- Amyloidosis
- Base Sequence
- Cysteine
- DNA
- Exons
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Peripheral Nervous System Diseases
- Polymerase Chain Reaction
- Prealbumin
- Tyrosine