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

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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 Artikel 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


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