Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M.; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D.; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Melanie; Saraiva, Jean-Paul; Leroy, Bart P.; Munier, Francis L.; Mohand-Said, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B.; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian R.; Schorderet, Daniel F.; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G.; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W.; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Helene; Poch, Olivier; Leveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, Jose-Alain; Bhattacharya, Shomi S.; Zeitz, Christina

dc.contributor.author	Kohl, Susanne	de_DE
dc.contributor.author	Zrenner, Eberhart	de_DE
dc.contributor.author	Wissinger, Bernd	de_DE
dc.date.accessioned	2014-05-22T15:53:37Z
dc.date.available	2014-05-22T15:53:37Z
dc.date.issued	2012	de_DE
dc.identifier.issn	0002-9297	de_DE
dc.identifier.uri	http://hdl.handle.net/10900/53144
dc.language.iso	en	en
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2011.12.007	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness	de_DE
dc.type	Article	de_DE
utue.quellen.id	20140226071329_03245	de_DE
utue.publikation.seiten	321-330	de_DE
utue.personen.roh	Audo, Isabelle	de_DE
utue.personen.roh	Bujakowska, Kinga	de_DE
utue.personen.roh	Orhan, Elise	de_DE
utue.personen.roh	Poloschek, Charlotte M.	de_DE
utue.personen.roh	Defoort-Dhellemmes, Sabine	de_DE
utue.personen.roh	Drumare, Isabelle	de_DE
utue.personen.roh	Kohl, Susanne	de_DE
utue.personen.roh	Luu, Tien D.	de_DE
utue.personen.roh	Lecompte, Odile	de_DE
utue.personen.roh	Zrenner, Eberhart	de_DE
utue.personen.roh	Lancelot, Marie-Elise	de_DE
utue.personen.roh	Antonio, Aline	de_DE
utue.personen.roh	Germain, Aurore	de_DE
utue.personen.roh	Michiels, Christelle	de_DE
utue.personen.roh	Audier, Claire	de_DE
utue.personen.roh	Letexier, Melanie	de_DE
utue.personen.roh	Saraiva, Jean-Paul	de_DE
utue.personen.roh	Leroy, Bart P.	de_DE
utue.personen.roh	Munier, Francis L.	de_DE
utue.personen.roh	Mohand-Said, Saddek	de_DE
utue.personen.roh	Lorenz, Birgit	de_DE
utue.personen.roh	Friedburg, Christoph	de_DE
utue.personen.roh	Preising, Markus	de_DE
utue.personen.roh	Kellner, Ulrich	de_DE
utue.personen.roh	Renner, Agnes B.	de_DE
utue.personen.roh	Moskova-Doumanova, Veselina	de_DE
utue.personen.roh	Berger, Wolfgang	de_DE
utue.personen.roh	Wissinger, Bernd	de_DE
utue.personen.roh	Hamel, Christian R.	de_DE
utue.personen.roh	Schorderet, Daniel F.	de_DE
utue.personen.roh	De Baere, Elfride	de_DE
utue.personen.roh	Sharon, Dror	de_DE
utue.personen.roh	Banin, Eyal	de_DE
utue.personen.roh	Jacobson, Samuel G.	de_DE
utue.personen.roh	Bonneau, Dominique	de_DE
utue.personen.roh	Zanlonghi, Xavier	de_DE
utue.personen.roh	Le Meur, Guylene	de_DE
utue.personen.roh	Casteels, Ingele	de_DE
utue.personen.roh	Koenekoop, Robert	de_DE
utue.personen.roh	Long, Vernon W.	de_DE
utue.personen.roh	Meire, Francoise	de_DE
utue.personen.roh	Prescott, Katrina	de_DE
utue.personen.roh	de Ravel, Thomy	de_DE
utue.personen.roh	Simmons, Ian	de_DE
utue.personen.roh	Nguyen, Hoan	de_DE
utue.personen.roh	Dollfus, Helene	de_DE
utue.personen.roh	Poch, Olivier	de_DE
utue.personen.roh	Leveillard, Thierry	de_DE
utue.personen.roh	Nguyen-Ba-Charvet, Kim	de_DE
utue.personen.roh	Sahel, Jose-Alain	de_DE
utue.personen.roh	Bhattacharya, Shomi S.	de_DE
utue.personen.roh	Zeitz, Christina	de_DE
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	90	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE