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Identification of a novel transthyretin variant (Val30----Leu) associated with familial amyloidotic polyneuropathy.
Authors:M Nakazato  S Ikeda  K Shiomi  S Matsukura  K Yoshida  H Shimizu  T Atsumi  K Kangawa  H Matsuo
Affiliation:Department of Medicine, Miyazaki Medical College, Japan.
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.
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