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Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

Runhart, Esmee H. ; Khan, Mubeen ; Cornelis, Stéphanie S. ; Roosing, Susanne ; Del Pozo-Valero, Marta ; Lamey, Tina M. ; Liskova, Petra ; Roberts, Lisa ; Stöhr, Heidi ; Klaver, Caroline C. W. ; Hoyng, Carel B. ; Cremers, Frans P. M. ; Dhaenens, Claire-Marie ; AlTabishi, Alaa ; Ayuso, Carmen ; Banfi, Sandro ; Ben-Yosef, Tamar ; van den Born, L. Ingeborgh ; Fakin, Ana ; Farrar, G. Jane ; Ferraz Sallum, Juliana Maria ; Fujinami, Kaoru ; Gorin, Michael B. ; Hlavata, Lucia ; Kamakari, Smaragda ; Kousal, Bohdan ; MacDonald, Ian M. ; McLaren, Terri L. ; Matynia, Anna ; Oldak, Monika ; Podhajcer, Osvaldo L. ; Ramesar, Raj ; De Roach, John N. ; Sharon, Dror ; Simonelli, Francesca ; Testa, Francesco ; Thompson, Jennifer A. ; Tracewska, Anna M. ; Vincent, Andrea L. ; Weber, Bernhard H. F.



Abstract

IMPORTANCE The mechanisms behind the phenotypic variability and reduced penetrance in autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly understood. Identification of the unknown disease modifiers can improve patient and family counseling and provide valuable information for disease management. OBJECTIVE To assess the association of incompletely penetrant ABCA4 ...

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