Nakazato M, Ikeda S, Shiomi K, Matsukura S, Yoshida K, Shimizu H, Atsumi T, Kangawa K, Matsuo H
Department of Medicine, Miyazaki Medical College, Japan.
FEBS Lett. 1992 Jul 20;306(2-3):206-8. doi: 10.1016/0014-5793(92)81001-3.
A novel variant transthyretin which contains a leucine-for-valine substitution at position 30 was isolated and identified in the serum of a patient with familial amyloidotic polyneuropathy (FAP). The amino acid substitution was proven to result from a guanine-to-cytosine change at the first base of codon 30 located in exon 2 in the mutated transthyretin gene by restriction fragment length analysis on the amplified transthyretin gene using Cfr13 I. The study indicates that the point mutation of the transthyretin gene is a cause of the disorder.
