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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...

Topics

Amino Acid Sequence
Amyloidosis
Base Sequence
Cardiomyopathies
Exons
Humans
Male
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Peptide Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Prealbumin

Source

Open in PubMed Open full text

Identifiers

PMID: 1570831
PMCID: PMC1682590

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1570831-2026-08-29.1. 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 mutation associated with amyloid cardiomyopathy.PMID 1570831Read ↗

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