Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Zeitz, Christina; Michiels, Christelle; Neuille, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; Preising, Markus N.; Blanchard, Steven; Saraiva, Jean-Paul; Mesrob, Lilia; Le Floch, Edith; Jubin, Claire; Meyer, Vincent; Blanche, Helene; Boland, Anne; Deleuze, Jean-Francois; Sharon, Dror; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; De Baere, Elfride; Leroy, Bart P.; Zanlonghi, Xavier; Casteels, Ingele; de Ravel, Thorny J.; Balikova, Irina; Koenekoop, Rob K.; Laffargue, Fanny; McLean, Rebecca; Gottlob, Irene; Bonneau, Dominique; Schorderet, Daniel F.; Munier, Francis L.; McKibbin, Martin; Prescott, Katrina; Pelletier, Valerie; Dollfus, Helene; Perdomo-Trujillo, Yaumara; Faure, Celine; Reiff, Charlotte; Wissinger, Bernd; Meunier, Isabelle; Kohl, Susanne; Banin, Eyal; Zrenner, Eberhart; Jurklies, Bernhard; Lorenz, Birgit; Sahel, Jose-Alain; Audo, Isabelle

dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Kohl, Susanne
dc.contributor.author	Zrenner, Eberhart
dc.date.accessioned	2020-04-03T09:48:37Z
dc.date.available	2020-04-03T09:48:37Z
dc.date.issued	2019
dc.identifier.issn	1098-1004
dc.identifier.uri	http://hdl.handle.net/10900/99483
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/humu.23735	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190926111821_01166
utue.publikation.seiten	765-787	de_DE
utue.personen.roh	Zeitz, Christina
utue.personen.roh	Michiels, Christelle
utue.personen.roh	Neuille, Marion
utue.personen.roh	Friedburg, Christoph
utue.personen.roh	Condroyer, Christel
utue.personen.roh	Boyard, Fiona
utue.personen.roh	Antonio, Aline
utue.personen.roh	Bouzidi, Nassima
utue.personen.roh	Milicevic, Diana
utue.personen.roh	Veaux, Robin
utue.personen.roh	Tourville, Aurore
utue.personen.roh	Zoumba, Axelle
utue.personen.roh	Seneina, Imene
utue.personen.roh	Foussard, Marine
utue.personen.roh	Andrieu, Camille
utue.personen.roh	Preising, Markus N.
utue.personen.roh	Blanchard, Steven
utue.personen.roh	Saraiva, Jean-Paul
utue.personen.roh	Mesrob, Lilia
utue.personen.roh	Le Floch, Edith
utue.personen.roh	Jubin, Claire
utue.personen.roh	Meyer, Vincent
utue.personen.roh	Blanche, Helene
utue.personen.roh	Boland, Anne
utue.personen.roh	Deleuze, Jean-Francois
utue.personen.roh	Sharon, Dror
utue.personen.roh	Drumare, Isabelle
utue.personen.roh	Defoort-Dhellemmes, Sabine
utue.personen.roh	De Baere, Elfride
utue.personen.roh	Leroy, Bart P.
utue.personen.roh	Zanlonghi, Xavier
utue.personen.roh	Casteels, Ingele
utue.personen.roh	de Ravel, Thorny J.
utue.personen.roh	Balikova, Irina
utue.personen.roh	Koenekoop, Rob K.
utue.personen.roh	Laffargue, Fanny
utue.personen.roh	McLean, Rebecca
utue.personen.roh	Gottlob, Irene
utue.personen.roh	Bonneau, Dominique
utue.personen.roh	Schorderet, Daniel F.
utue.personen.roh	Munier, Francis L.
utue.personen.roh	McKibbin, Martin
utue.personen.roh	Prescott, Katrina
utue.personen.roh	Pelletier, Valerie
utue.personen.roh	Dollfus, Helene
utue.personen.roh	Perdomo-Trujillo, Yaumara
utue.personen.roh	Faure, Celine
utue.personen.roh	Reiff, Charlotte
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Meunier, Isabelle
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Banin, Eyal
utue.personen.roh	Zrenner, Eberhart
utue.personen.roh	Jurklies, Bernhard
utue.personen.roh	Lorenz, Birgit
utue.personen.roh	Sahel, Jose-Alain
utue.personen.roh	Audo, Isabelle
dcterms.isPartOf.ZSTitelID	Human Mutation	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	40	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE