Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Grunert, Sarah C.; Hannibal, Luciana; Schumann, Anke; Rosenbaum-Fabian, Stefanie; Beck-Wodl, Stefanie; Haack, Tobias B.; Grimmel, Mona; Bertrand, Miriam; Spiekerkoetter, Ute

dc.contributor.author	Beck-Wödl, Stefanie
dc.contributor.author	Grimmel, Mona
dc.contributor.author	Bertrand, Miriam
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2021-07-27T09:39:46Z
dc.date.available	2021-07-27T09:39:46Z
dc.date.issued	2021
dc.identifier.issn	2075-4418
dc.identifier.uri	http://hdl.handle.net/10900/117320
dc.language.iso	en	de_DE
dc.publisher	Mdpi	de_DE
dc.relation.uri	http://dx.doi.org/10.3390/diagnostics11030500	de_DE
dc.subject.ddc	610	de_DE
dc.title	Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210512015105_00556
utue.personen.roh	Grunert, Sarah C.
utue.personen.roh	Hannibal, Luciana
utue.personen.roh	Schumann, Anke
utue.personen.roh	Rosenbaum-Fabian, Stefanie
utue.personen.roh	Beck-Wodl, Stefanie
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Grimmel, Mona
utue.personen.roh	Bertrand, Miriam
utue.personen.roh	Spiekerkoetter, Ute
dcterms.isPartOf.ZSTitelID	Diagnostics	de_DE
dcterms.isPartOf.ZS-Issue	Article 500	de_DE
dcterms.isPartOf.ZS-Volume	11 (3)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE