Eline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, Eline Geens, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, Cheryl Y Gregory-Evans, Lies Hoefsloot, Adriana Iglesias Gonzalez, Susanne Kohl, Theresia Zuleger, Tanguy Demaret, Sari Tuupanen, Joke Ruys, Luc Van Os, Elise Platteau, Julie Jacob, Sascha Vermeer, Laurence Postelmans, Karin Dahan, Isabelle Maystadt, Florence Rasquin, Alberta A H J Thiadens, Kirk A J Stephenson, Narin Sheri, Vasily Smirnov, Ian M MacDonald, Kevin Gregory-Evans, T Michael Redmond, Julie De Zaeytijd, Bart P Leroy, Miriam Bauwens, Elfride De Baere, Dominant RPE65-p.(E519K) Consortium
چکیده
Recessive RPE65-associated retinopathy is a well-known target for gene therapy, whereas dominant RPE65-associated retinopathy, due to the Irish founder variant p.(D477G), has been reported only once until now and is very rare. Here, we present the discovery of a novel, second dominant…
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