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Article

[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...

Topics

Amyloidosis
Base Sequence
DNA Mutational Analysis
Family Health
Genes
Genetic Code
Humans
Japan
Molecular Sequence Data
Mutation
Nervous System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Prealbumin

Source

Identifiers

PMID: 1686993

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1686993-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 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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