Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multi-systemic disease with wild-type (ATTRwt) and hereditary (ATTRv) forms. Over 130 variants associated with ATTRv amyloidosis have been identified, although little is known about the majority of these genotypes. This analysis examined...

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Main Authors: Luca Gentile, Igor Diemberger, Violaine Plante-Bordeneuve, Anna Mazzeo, Amir Dori, Marco Luigetti, Andrea Di Paolantonio, Angela Dispenzieri, Martha Grogan, Márcia Waddington Cruz, David Adams, Jocelyn Inamo, Arnt V Kristen, Calogero Lino Cirami, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0292435&type=printable

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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0292435&type=printable

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