Genotypic and phenotypic presentation of TTR-FAP in Turkey
Künye
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 2014Özet
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.
