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author = "BRESOLIN, NEREO" > : "S. Karger AG" (x)
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Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

Author(s) : Riboldi, Giulietta , Del Bo, Roberto , Ranieri, Michela , Magri, Francesca , Sciacco, Monica , Moggio, Maurizio , Bresolin, Nereo
Description : Transthyretin (TTR) amyloidosis, the most frequent form of hereditary amyloidosis, is caused by dominant mutations in the TTR gene. More than 100 mutations have been identified. Clinical manifestations of TTR amyloidosis are usually induced by extracellular amyloid deposition in several organs. The ...
Repository : Europe PubMed Central
Language(s) : English
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