Khan, Mubeen ; Cornelis, Stéphanie S. ; Khan, Muhammad Imran ; Elmelik, Duaa ; Manders, Eline ; Bakker, Sem ; Derks, Ronny ; Neveling, Kornelia ; Vorst, Maartje ; Gilissen, Christian ; Meunier, Isabelle ; Defoort, Sabine ; Puech, Bernard ; Devos, Aurore ; Schulz, Heidi L. ; Stöhr, Heidi ; Grassmann, Felix 
; Weber, Bernhard H. F. ; Dhaenens, Claire‐Marie ; Cremers, Frans P. M.
; Weber, Bernhard H. F. ; Dhaenens, Claire‐Marie ; Cremers, Frans P. M. 
Abstract
Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods. We aimed to develop a cost-effective sequencing method for ABCA4 exons and regions carrying known causal deep-intronic variants. Methods Fifty exons and 12 regions containing 14 deep-intronic variants of ABCA4 were sequenced using ...
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