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Article

A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.

Journal of medical genetics - 1 Apr 1995

Uemichi T, Gertz M A, Benson M D

Abstract excerpt

An American kindred with systemic amyloidosis presenting with carpal tunnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequencing and both cytosine and thymine were present at the first base of codon 24. This new point mutation in exon 2 results in the amino acid substitution of serine for proline in the A-B loop of the...

Topics

Aged
Amyloid Neuropathies
Cardiomyopathies
Codon
Cytosine
DNA
Exons
Family Health
Female
Genetic Variation
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Pedigree

Point Mutation

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 7643356
DOI: 10.1136/jmg.32.4.279
PMCID: PMC1050375

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7643356-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.PMID 7643356Read ↗

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