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Article

Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.

Human genomics - 25 Mar 2024

De Lillo Antonella, Pathak Gita A, Low Aislinn, De Angelis Flavio, Abou Alaiwi Sarah, Miller Edward J, Fuciarelli Maria, Polimanti Renato

Abstract excerpt

PURPOSE: Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited information regarding differences among worldwide populations. METHODS: We compared 676 diverse individuals carrying TTR amyloidogenic mutations (rs138065384, Phe44Leu; rs730881165, Ala81Thr; rs121918074, His90Asn; rs76992529, Val122Ile) to 12,430...

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Identifiers

PMID: 38523305
DOI: 10.1186/s40246-024-00596-7
PMCID: PMC10962184

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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