Identification of a novel transthyretin variant (Val30→Leu) associated with familial amyloidotic polyneuropathy
Open Access
- 20 July 1992
- journal article
- Published by Wiley in FEBS Letters
- Vol. 306 (2-3), 206-208
- https://doi.org/10.1016/0014-5793(92)81001-3
Abstract
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.Keywords
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