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[DNA tests for mutant genes coding for transthyretins Gly42, Arg50 and Cys114 in Japanese cases of familial amyloid polyneuropathy].

Rinsho shinkeigaku = Clinical neurology - 1 Oct 1991

Uemichi T, Ueno S, Takahashi N, Soga F, Yorifuji S, Tarui S

Abstract excerpt

Four different genes encoding variant transthyretins (TTR) have been known in Japanese cases with familial amyloidotic polyneuropathy (FAP); TTR Met30, Gly42, Arg50 and Cys114. First three mutant genes can be detected by restriction fragment length polymorphism using NsiI, Cfr13I and MvaI, respectively. Since a single base change responsible for TTR Cys114 produces no new restriction site, RFLP is not directly...

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Source

Identifiers

PMID: 1686993

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[DNA tests for mutant genes coding for transthyretins Gly42, Arg50 and Cys114 in Japanese cases of familial amyloid polyneuropathy].PMID 1686993Read ↗

Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).Semantic proximity Read ↗

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A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.Semantic proximity Read ↗

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