Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catala-Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou-Tzeli, Sofia; Matet, Alexandre; Sampol, Loreto Martorell; Meunier, Isabelle; Rudolph, Gunther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsanyi, Balazs; Wissinger, Bernd; Kohl, Susanne

dc.contributor.author	Weisschuh, Nicole
dc.contributor.author	Sturm, Marc
dc.contributor.author	Baumann, Britta
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Kohl, Susanne
dc.contributor.author	Štingl, Katarína
dc.date.accessioned	2020-11-09T09:26:42Z
dc.date.available	2020-11-09T09:26:42Z
dc.date.issued	2020
dc.identifier.issn	1098-1004
dc.identifier.uri	http://hdl.handle.net/10900/109319
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/humu.23920	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200715072417_02435
utue.publikation.seiten	255-264	de_DE
utue.personen.roh	Weisschuh, Nicole
utue.personen.roh	Sturm, Marc
utue.personen.roh	Baumann, Britta
utue.personen.roh	Audo, Isabelle
utue.personen.roh	Ayuso, Carmen
utue.personen.roh	Bocquet, Beatrice
utue.personen.roh	Branham, Kari
utue.personen.roh	Brooks, Brian P.
utue.personen.roh	Catala-Mora, Jaume
utue.personen.roh	Giorda, Roberto
utue.personen.roh	Heckenlively, John R.
utue.personen.roh	Hufnagel, Robert B.
utue.personen.roh	Jacobson, Samuel G.
utue.personen.roh	Kellner, Ulrich
utue.personen.roh	Kitsiou-Tzeli, Sofia
utue.personen.roh	Matet, Alexandre
utue.personen.roh	Sampol, Loreto Martorell
utue.personen.roh	Meunier, Isabelle
utue.personen.roh	Rudolph, Gunther
utue.personen.roh	Sharon, Dror
utue.personen.roh	Stingl, Katarina
utue.personen.roh	Streubel, Berthold
utue.personen.roh	Varsanyi, Balazs
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Kohl, Susanne
dcterms.isPartOf.ZSTitelID	Human Mutation	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	41	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE