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Article

Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jan 2015

Iorio Andrea, De Angelis Flavio, Di Girolamo Marco, Luigetti Marco, Pradotto Luca, Mauro Alessandro, Manfellotto Dario, Fuciarelli Maria, Polimanti Renato

Abstract excerpt

INTRODUCTION: Transthyretin (TTR)-related amyloidosis is characterized by autosomal transmission of amyloidogenic mutated TTR. Val30Met is one of the most common amyloidogenic TTR mutations, showing a worldwide distribution with phenotypic heterogeneity among human populations. Multiple founder m...

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Source

Identifiers

PMID: 25510352
DOI: 10.3109/13506129.2014.994597

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25510352-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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