Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation

Mayer, Anja K.; Rohrschneider, Klaus; Strom, Tim M.; Gloeckle, Nicola; Kohl, Susanne; Wissinger, Bernd; Weisschuh, Nicole

dc.contributor.author	Mayer, Anja Kathrin
dc.contributor.author	Kohl, Susanne
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Weisschuh, Nicole
dc.date.accessioned	2017-03-21T15:50:54Z
dc.date.available	2017-03-21T15:50:54Z
dc.date.issued	2016
dc.identifier.issn	1476-5438
dc.identifier.uri	http://hdl.handle.net/10900/75247
dc.language.iso	en	en
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/ejhg.2015.144
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation	de_DE
dc.type	Article	de_DE
utue.quellen.id	20160915142648_01560
utue.publikation.seiten	459-462	de_DE
utue.personen.roh	Mayer, Anja K.
utue.personen.roh	Rohrschneider, Klaus
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Gloeckle, Nicola
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Weisschuh, Nicole
dcterms.isPartOf.ZSTitelID	European Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	24	de_DE
utue.fakultaet	04 Medizinische Fakultät