Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Bauwens, Miriam; Storch, Stephan; Weisschuh, Nicole; Ceuterick-de Groote, Chantal; De Rycke, Riet; Guillemyn, Brecht; De Jaegere, Sarah; Coppieters, Frauke; Van Coster, Rudy; Leroy, Bart P.; De Baere, Elfride

dc.contributor.author	Weisschuh, Nicole
dc.date.accessioned	2020-11-03T10:41:46Z
dc.date.available	2020-11-03T10:41:46Z
dc.date.issued	2020
dc.identifier.issn	1399-0004
dc.identifier.uri	http://hdl.handle.net/10900/109125
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1111/cge.13673	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200715072417_02351
utue.publikation.seiten	426-436	de_DE
utue.personen.roh	Bauwens, Miriam
utue.personen.roh	Storch, Stephan
utue.personen.roh	Weisschuh, Nicole
utue.personen.roh	Ceuterick-de Groote, Chantal
utue.personen.roh	De Rycke, Riet
utue.personen.roh	Guillemyn, Brecht
utue.personen.roh	De Jaegere, Sarah
utue.personen.roh	Coppieters, Frauke
utue.personen.roh	Van Coster, Rudy
utue.personen.roh	Leroy, Bart P.
utue.personen.roh	De Baere, Elfride
dcterms.isPartOf.ZSTitelID	Clinical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	97	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE