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