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Open Access 01.12.2015 | Oral presentation

TTR-FAP: a single-center experience in Sicily, an Italian endemic area

verfasst von: Anna Mazzeo, Massimo Russo, Gianluca Di Bella, Fabio Minutoli, Claudia Stancenelli, Luca Gentile, Antonio Toscano, Giuseppe Vita

Erschienen in: Orphanet Journal of Rare Diseases | Sonderheft 1/2015

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Excerpt

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 than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. …

Titel: TTR-FAP: a single-center experience in Sicily, an Italian endemic area
verfasst von: Anna Mazzeo
Massimo Russo
Gianluca Di Bella
Fabio Minutoli
Claudia Stancenelli
Luca Gentile
Antonio Toscano
Giuseppe Vita
Publikationsdatum: 01.12.2015
Verlag: BioMed Central
Erschienen in: Orphanet Journal of Rare Diseases / Ausgabe Sonderheft 1/2015
Elektronische ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-10-S1-O1

Springer Medizin

Excerpt

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