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Article

Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.

Scandinavian journal of immunology - 1 Oct 1990

Saraiva M J, Sherman W, Marboe C, Figueira A, Costa P, de Freitas A F, Gawinowicz M A

Abstract excerpt

Amyloid fibril material was extracted from autopsy material of a patient who died from progressive cardiac failure at age 64. He had enlarged heart on routine X-ray at age 47 and the first symptoms of cardiac failure at age 62. Fractionation of the fibril material resolved peptide fragments immunoreactive with anti-human transthyretin (TTR). One of the peptides was further purified by high-performance liquid...

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Source

Identifiers

PMID: 2237288
DOI: 10.1111/j.1365-3083.1990.tb02928.x

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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Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.PMID 2237288Read ↗

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Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies.Semantic proximity Read ↗

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Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.Semantic proximity Read ↗

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