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Article

Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina.

Molecular genetics & genomic medicine - 1 Nov 2021

Saez Maria S, Aguirre Maria A, Pérez de Arenaza Diego, Sorroche Patricia, Nucifora Elsa, Posadas Martinez Maria L

Abstract excerpt

BACKGROUND: In Argentina, there is limited data of prevalence of variant transthyretin amyloidosis (ATTRv) and phenotype-genotype correlation. The laboratory of Hospital Italiano de Buenos Aires (HIBA) is a reference center for transthyretin (TTR) gene sequencing. The Institutional Amyloidosis Registry (RIA) enable us to characterize people with ATTRv. Our aim was to describe the prevalence of TTR mutations at a...

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Identifiers

PMID: 34668655
DOI: 10.1002/mgg3.1812
PMCID: PMC8606196

Genes

TTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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