Cargando…

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...

Descripción completa

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

Ejemplares similares