Sangermano, Riccardo 
; Garanto, Alejandro ; Khan, Mubeen ; Runhart, Esmee H. ; Bauwens, Miriam ; Bax, Nathalie M. ; van den Born, L. Ingeborgh ; Khan, Muhammad Imran ; Cornelis, Stéphanie S. ; Verheij, Joke B. G. M. ; Pott, Jan-Willem R. ; Thiadens, Alberta A. H. J. ; Klaver, Caroline C. W. ; Puech, Bernard ; Meunier, Isabelle ; Naessens, Sarah ; Arno, Gavin ; Fakin, Ana ; Carss, Keren J. ; Raymond, F. Lucy ; Webster, Andrew R. ; Dhaenens, Claire-Marie ; Stöhr, Heidi ; Grassmann, Felix ; Weber, Bernhard H. F. ; Hoyng, Carel B. ; De Baere, Elfride ; Albert, Silvia ; Collin, Rob W. J. ; Cremers, Frans P. M.
; Garanto, Alejandro ; Khan, Mubeen ; Runhart, Esmee H. ; Bauwens, Miriam ; Bax, Nathalie M. ; van den Born, L. Ingeborgh ; Khan, Muhammad Imran ; Cornelis, Stéphanie S. ; Verheij, Joke B. G. M. ; Pott, Jan-Willem R. ; Thiadens, Alberta A. H. J. ; Klaver, Caroline C. W. ; Puech, Bernard ; Meunier, Isabelle ; Naessens, Sarah ; Arno, Gavin ; Fakin, Ana ; Carss, Keren J. ; Raymond, F. Lucy ; Webster, Andrew R. ; Dhaenens, Claire-Marie ; Stöhr, Heidi ; Grassmann, Felix ; Weber, Bernhard H. F. ; Hoyng, Carel B. ; De Baere, Elfride ; Albert, Silvia ; Collin, Rob W. J. ; Cremers, Frans P. M. 
Zusammenfassung
Purpose: Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing heritability. Methods: Sequencing of ABCA4 was performed in 8 STGD1 cases with one variant and p.Asn1868Ile in trans, 25 cases with one variant, and 3 cases with no ABCA4 variant. ...
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