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Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey
Durmuş-Tekçe H.; Matur Z.; Mert Atmaca M.; Poda M.; Çakar A.; Hıdır Ulaş Ü.; Parman Y.G. (Elsevier Ltd, 2016)Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic ...