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Hereditary transthyretin amyloidosis overview

Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring...

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Detalles Bibliográficos
Autores principales: Manganelli, Fiore, Fabrizi, Gian Maria, Luigetti, Marco, Mandich, Paola, Mazzeo, Anna, Pareyson, Davide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9780126/
https://www.ncbi.nlm.nih.gov/pubmed/33188616
http://dx.doi.org/10.1007/s10072-020-04889-2