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Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area

Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more th...

詳細記述

保存先:
書誌詳細
出版年:J Neuromuscul Dis
主要な著者: Mazzeo, Anna, Russo, Massimo, Di Bella, Gianluca, Minutoli, Fabio, Stancanelli, Claudia, Gentile, Luca, Baldari, Sergio, Carerj, Scipione, Toscano, Antonio, Vita, Giuseppe
フォーマット: Artigo
言語:Inglês
出版事項: IOS Press 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5271421/
https://ncbi.nlm.nih.gov/pubmed/27858761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-150091
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