Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population | Orphanet Journal of Rare Diseases | Full Text

Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population | Orphanet Journal of Rare Diseases | Full Text

Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population

In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh wh...

Authors:Andreea Jercan, Amalia Ene, Ruxandra Jurcut, Mirela Draghici, Sorina Badelita, Mihaela Dragomir, Camelia Dobrea, Monica Popescu, Dumitru Jardan, Emanuel Stoica, Speranta Iacob, Ionela Codita, Claudiu Stan and Daniel Coriu

Citation:Orphanet Journal of Rare Diseases 2020 15:34

Content type:Research

Published on: 30 January 2020

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