Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne

dc.contributor.author	Solaki, Maria
dc.contributor.author	Baumann, Britta
dc.contributor.author	Reuter, Peggy
dc.contributor.author	Zobor, Ditta
dc.contributor.author	Stingl, Katarina
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Kohl, Susanne
dc.date.accessioned	2022-12-21T14:47:29Z
dc.date.available	2022-12-21T14:47:29Z
dc.date.issued	2022
dc.identifier.issn	1059-7794
dc.identifier.uri	http://hdl.handle.net/10900/134581
dc.language.iso	en	en
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/humu.24371
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_01177
utue.publikation.seiten	832-858	de_DE
utue.personen.roh	Solaki, Maria
utue.personen.roh	Baumann, Britta
utue.personen.roh	Reuter, Peggy
utue.personen.roh	Andreasson, Sten
utue.personen.roh	Audo, Isabelle
utue.personen.roh	Ayuso, Carmen
utue.personen.roh	Balousha, Ghassan
utue.personen.roh	Benedicenti, Francesco
utue.personen.roh	Birch, David
utue.personen.roh	Bitoun, Pierre
utue.personen.roh	Blain, Delphine
utue.personen.roh	Bocquet, Beatrice
utue.personen.roh	Branham, Kari
utue.personen.roh	Catala-Mora, Jaume
utue.personen.roh	De Baere, Elfride
utue.personen.roh	Dollfus, Helene
utue.personen.roh	Falana, Mohammed
utue.personen.roh	Giorda, Roberto
utue.personen.roh	Golovleva, Irina
utue.personen.roh	Gottlob, Irene
utue.personen.roh	Heckenlively, John R.
utue.personen.roh	Jacobson, Samuel G.
utue.personen.roh	Jones, Kaylie
utue.personen.roh	Jaegle, Herbert
utue.personen.roh	Janecke, Andreas R.
utue.personen.roh	Kellner, Ulrich
utue.personen.roh	Liskova, Petra
utue.personen.roh	Lorenz, Birgit
utue.personen.roh	Martorell-Sampol, Loreto
utue.personen.roh	Messias, Andre
utue.personen.roh	Meunier, Isabelle
utue.personen.roh	Belga Ottoni Porto, Fernanda
utue.personen.roh	Papageorgiou, Eleni
utue.personen.roh	Plomp, Astrid S.
utue.personen.roh	de Ravel, Thomy J. L.
utue.personen.roh	Reiff, Charlotte M.
utue.personen.roh	Renner, Agnes B.
utue.personen.roh	Rosenberg, Thomas
utue.personen.roh	Rudolph, Guenther
utue.personen.roh	Salati, Roberto
utue.personen.roh	Sener, E. Cumhur
utue.personen.roh	Sieving, Paul A.
utue.personen.roh	Stanzial, Franco
utue.personen.roh	Traboulsi, Elias, I
utue.personen.roh	Tsang, Stephen H.
utue.personen.roh	Varsanyi, Balazs
utue.personen.roh	Weleber, Richard G.
utue.personen.roh	Zobor, Ditta
utue.personen.roh	Stingl, Katarina
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Kohl, Susanne
dcterms.isPartOf.ZSTitelID	Human Mutation	de_DE
dcterms.isPartOf.ZS-Issue	7	de_DE
dcterms.isPartOf.ZS-Volume	43	de_DE
utue.fakultaet	04 Medizinische Fakultät