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Article

The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population.

Journal of the peripheral nervous system : JPNS - 1 Jun 2018

Lavigne-Moreira Carolina, Marques Vanessa D, Gonçalves Marcus V M, de Oliveira Mauricio F, Tomaselli Pedro J, Nunez José C, do Nascimento Osvaldo J M, Barreira Amilton A, Marques Wilson

Abstract excerpt

To present the genetic heterogeneity of a sample of the Brazilian population with transthyretin (TTR) mutations. This cohort study was descriptive and retrospective, and enrolled patients with peripheral neuropathy of unknown cause that were found to have a mutation in the TTR gene during the process of etiological investigation, between July 1997 to January 2016. Over the study period, 129 point mutations were...

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Identifiers

PMID: 29520877
DOI: 10.1111/jns.12259

Genes

TTR
FAP

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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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