A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

Rump, Andreas; Hildebrand, Laura; Tzschach, Andreas; Ullmann, Reinhard; Schrock, Evelin; Mitter, Diana

dc.contributor.author	Tzschach, Andreas	de_DE
dc.date.accessioned	2013-12-02T13:54:11Z
dc.date.available	2013-12-02T13:54:11Z
dc.date.issued	2013	de_DE
dc.identifier.issn	1018-4813	de_DE
dc.identifier.uri	http://hdl.handle.net/10900/38493
dc.language.iso	en	en
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/ejhg.2012.267	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring	de_DE
dc.type	Article	de_DE
utue.quellen.id	20130911224530_00192	de_DE
utue.publikation.seiten	887-890	de_DE
utue.personen.roh	Rump, Andreas	de_DE
utue.personen.roh	Hildebrand, Laura	de_DE
utue.personen.roh	Tzschach, Andreas	de_DE
utue.personen.roh	Ullmann, Reinhard	de_DE
utue.personen.roh	Schrock, Evelin	de_DE
utue.personen.roh	Mitter, Diana	de_DE
dcterms.isPartOf.ZSTitelID	European Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	8	de_DE
dcterms.isPartOf.ZS-Volume	21	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE