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Article

Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.

European journal of human genetics : EJHG - 1 Sept 2017

Iorio Andrea, De Lillo Antonella, De Angelis Flavio, Di Girolamo Marco, Luigetti Marco, Sabatelli Mario, Pradotto Luca, Mauro Alessandro, Mazzeo Anna, Stancanelli Claudia, Perfetto Federico, Frusconi Sabrina, My Filomena, Manfellotto Dario, Fuciarelli Maria, Polimanti Renato

Abstract excerpt

Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a...

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Identifiers

PMID: 28635949
DOI: 10.1038/ejhg.2017.95
PMCID: PMC5558178

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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