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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...

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Identifiers

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

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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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