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Article

A new transthyretin mutation associated with amyloid cardiomyopathy.

American journal of human genetics - 1 May 1992

Saraiva M J, Almeida M do R, Sherman W, Gawinowicz M, Costa P, Costa P P, Goodman D S

Abstract excerpt

In transthyretin (TTR) a new mutation (TTR-Thr45) has been identified in a patient with familial amyloidosis characterized clinically by prominent cardiomyopathy and the absence of peripheral neuropathy. Comparative peptide mapping by high-performance liquid chromatography of the patient's plasma TTR together with normal TTR showed the presence of an abnormal tryptic peptide in the patient's TTR. The sequence of...

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Source

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Identifiers

PMID: 1570831
PMCID: PMC1682590

Genes

TTR

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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