RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y.; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A. H. J.; Stephenson, Kirk A. J.; Sheri, Narin; Smirnov, Vasily; Macdonald, Ian M.; Gregory-Evans, Kevin; Redmond, T. Michael; De Zaeytijd, Julie; Leroy, Bart P.; Bauwens, Miriam; De Baere, Elfride

dc.contributor.author	Kohl, Susanne
dc.contributor.author	Zuleger, Theresia
dc.date.accessioned	2026-04-14T09:43:38Z
dc.date.available	2026-04-14T09:43:38Z
dc.date.issued	2025
dc.identifier.issn	0146-0404
dc.identifier.uri	http://hdl.handle.net/10900/178289
dc.language.iso	en	de_DE
dc.publisher	Rockville : Assoc Research Vision Ophthalmology Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1167/iovs.66.12.53	de_DE
dc.subject.ddc	610	de_DE
dc.title	RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals	de_DE
dc.type	Article	de_DE
utue.quellen.id	20251118000000_00924
utue.personen.roh	Van Vooren, Eline
utue.personen.roh	Van Den Broeck, Filip
utue.personen.roh	Mahieu, Quinten
utue.personen.roh	Geens, Eline
utue.personen.roh	Van Heetvelde, Mattias
utue.personen.roh	De Bruyne, Marieke
utue.personen.roh	Van de Sompele, Stijn
utue.personen.roh	Uppal, Sheetal
utue.personen.roh	Poliakov, Eugenia
utue.personen.roh	Dhaenens, Claire-Marie
utue.personen.roh	Gregory-Evans, Cheryl Y.
utue.personen.roh	Hoefsloot, Lies
utue.personen.roh	Gonzalez, Adriana Iglesias
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Zuleger, Theresia
utue.personen.roh	Demaret, Tanguy
utue.personen.roh	Tuupanen, Sari
utue.personen.roh	Ruys, Joke
utue.personen.roh	Van Os, Luc
utue.personen.roh	Platteau, Elise
utue.personen.roh	Jacob, Julie
utue.personen.roh	Vermeer, Sascha
utue.personen.roh	Postelmans, Laurence
utue.personen.roh	Dahan, Karin
utue.personen.roh	Maystadt, Isabelle
utue.personen.roh	Rasquin, Florence
utue.personen.roh	Thiadens, Alberta A. H. J.
utue.personen.roh	Stephenson, Kirk A. J.
utue.personen.roh	Sheri, Narin
utue.personen.roh	Smirnov, Vasily
utue.personen.roh	Macdonald, Ian M.
utue.personen.roh	Gregory-Evans, Kevin
utue.personen.roh	Redmond, T. Michael
utue.personen.roh	De Zaeytijd, Julie
utue.personen.roh	Leroy, Bart P.
utue.personen.roh	Bauwens, Miriam
utue.personen.roh	De Baere, Elfride
dcterms.isPartOf.ZSTitelID	Investigative Ophthalmology & Visual Science	de_DE
dcterms.isPartOf.ZS-Issue	12	de_DE
dcterms.isPartOf.ZS-Volume	66	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE