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ǂA ǂnon-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease
Tina Levstek, Nika Breznik, Kaja Balant Marin, Tisa Podkrajšek, Bojan Vujkovac, Albina Nowak, João-Paulo Oliveira, Gabriela Dostálová, Aleš Linhart, Marketa Šafaříková, Gheona Altarescu, Katarina Trebušak Podkrajšek, Katarina Trebušak Podkrajšek
Izvirni znanstveni članek
Oznake: Fabry disease;nephrophaty;non-coding variants;podocytes;single nucleotide polymorphisms;
Fabry disease is a rare, X-linked lysosomal storage disorder that often leads to progressive kidney dysfunction. Despite carrying the same pathogenic GLA variant, patients exhibit considerable variability in the onset and progression of Fabry nephropathy, suggesting the involvement of additional gen ...
Leto: 2026 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 1
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