A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Kohl, Susanne; Coppieters, Frauke; Meire, Francoise; Schaich, Simone; Roosing, Susanne; Brennenstuhl, Christina; Bolz, Sylvia; van Genderen, Maria M.; Riemslag, Frans C. C.; Lukowski, Robert; den Hollander, Anneke I.; Cremers, Frans P. M.; De Baere, Elfride; Hoyng, Carel B.; Wissinger, Bernd

dc.contributor.author	Kohl, Susanne
dc.contributor.author	Schaich, Simone
dc.contributor.author	Brennenstuhl, Christina
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Bolz, Sylvia
dc.contributor.author	Lukowski, Robert
dc.date.accessioned	2014-03-06T10:49:51Z
dc.date.available	2014-03-06T10:49:51Z
dc.date.issued	2012
dc.identifier.issn	0002-9297
dc.identifier.uri	http://hdl.handle.net/10900/43030
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2012.07.006	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20140226071329_01025	de_DE
utue.publikation.seiten	527-532	de_DE
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Coppieters, Frauke
utue.personen.roh	Meire, Francoise
utue.personen.roh	Schaich, Simone
utue.personen.roh	Roosing, Susanne
utue.personen.roh	Brennenstuhl, Christina
utue.personen.roh	Bolz, Sylvia
utue.personen.roh	van Genderen, Maria M.
utue.personen.roh	Riemslag, Frans C. C.
utue.personen.roh	Lukowski, Robert
utue.personen.roh	den Hollander, Anneke I.
utue.personen.roh	Cremers, Frans P. M.
utue.personen.roh	De Baere, Elfride
utue.personen.roh	Hoyng, Carel B.
utue.personen.roh	Wissinger, Bernd
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	91	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE
utue.fakultaet	07 Mathematisch-Naturwissenschaftliche Fakultät	de_DE