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Article

A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker.

FEBS letters - 10 Aug 1992

Saeki Y, Ueno S, Takahashi N, Soga F, Yanagihara T

Abstract excerpt

DNA sequence polymorphisms in transthyretin (TTR) genes were investigated by single-strand conformation polymorphism (SSCP) analysis of polymerase chain reaction products. The amplified DNA fragments that encode each exon of the normal TTR gene showed two bands, representing the two complementary single strands of DNA. In one patient with amyloid polyneuropathy, the exon 3 DNA showed a unique, aberrant migration...

Topics

Amyloidosis
Autoradiography
Base Sequence
DNA Mutational Analysis
DNA, Single-Stranded
Genetic Markers
Humans
Isoleucine
Molecular Sequence Data
Mutation
Nervous System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Polymorphism, Genetic

Prealbumin

Source

Identifiers

PMID: 1644201
DOI: 10.1016/0014-5793(92)81044-m

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1644201-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker.PMID 1644201Read ↗

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