Article
A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.
Biochemical and biophysical research communications - 16 Aug 1993
Shiomi K, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K, Matsuo H
Abstract excerpt
A new mutation of transthyretin (TTR) has been identified in a patient with late-onset familial amyloidotic polyneuropathy (FAP) of Japanese origin. Peptide mapping by reverse-phase high performance liquid chromatography to compare the patient's TTR with normal TTR showed the presence of an abnor...
Topics
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Asian People
- Base Sequence
- Exons
- Female
- Hereditary Sensory and Motor Neuropathy
- Humans
- Japan
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation