Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins

Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins

Abstract 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 amyl...

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Bibliographic Details
Main Authors: Antonella De Lillo, Gita A. Pathak, Aislinn Low, Flavio De Angelis, Sarah Abou Alaiwi, Edward J. Miller, Maria Fuciarelli, Renato Polimanti
Format: Article
Language:English
Published: BMC 2024-03-01
Series:Human Genomics
Subjects:
TTR amyloidosis
Electronic health records
Diversity
Disease associations
Online Access:https://doi.org/10.1186/s40246-024-00596-7

Internet

https://doi.org/10.1186/s40246-024-00596-7

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