Genotypic and phenotypic presentation of TTR-FAP in Turkey
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2014Author
Durmus, H.Matur, Zeliha
Atmaca, M.M.
Poda, M.
Oflazer-Serdaroglu, P.
Deymeer, Feza
Parman, Yeşim
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Durmus H, Matur Z, Atmaca MM, Poda M, Oflazer-Serdaroglu P, Deymeer F, Parman Y. Genotypic and phenotypic presentation of TTR-FAP in Turkey. European Journal of Neurology. 2014; 21(Suppl.1): 137. Joint Congress of European Neurology, Istanbul, Turkey, May 2014Abstract
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. More than 100 different mutations of the transthyretin gene were identified worlwide, but still the first described Val30Met is the most common one.