Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage and death. For other late-onset fatal diseases, as Huntington’s disease, protocols for pre-...

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Detalles Bibliográficos
Autores principales: Grandis, M., Obici, L., Luigetti, M., Briani, C., Benedicenti, F., Bisogni, G., Canepa, M., Cappelli, F., Danesino, C., Fabrizi, G. M., Fenu, S., Ferrandes, G., Gemelli, C., Manganelli, F., Mazzeo, A., Melchiorri, L., Perfetto, F., Pradotto, L. G., Rimessi, P., Tini, G., Tozza, S., Trevisan, L., Pareyson, D., Mandich, P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7734774/
https://www.ncbi.nlm.nih.gov/pubmed/33317601
http://dx.doi.org/10.1186/s13023-020-01633-z

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