Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca

Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca

Abstract Background Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused by the V30M gene variant (A-ATTRV30M) is the most common. Since asympto...

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Bibliographic Details
Main Authors: E. Cisneros-Barroso, F. Gorram, M. A. Ribot-Sansó, F. Alarcon, G. Nuel, J. González-Moreno, A. Rodríguez, J. Hernandez-Rodriguez, E. Amengual-Cladera, I. Martínez-López, T. Ripoll-Vera, I. Losada-López, D. Heine-Suñer, V. Plante-Bordeneuve
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Transthyretin amyloidosis
Polyneuropathy
Genetics
Disease risk
Gene carriers
Online Access:https://doi.org/10.1186/s13023-023-02865-5

Internet

https://doi.org/10.1186/s13023-023-02865-5

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