A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Reith, Milda; Zeltner, Lena; Schaeferhoff, Karin; Witt, Dennis; Zuleger, Theresia; Haack, Tobias B.; Bornemann, Antje; Alber, Michael; Ruf, Susanne; Schoels, Ludger; Stingl, Katarina; Weisschuh, Nicole

dc.contributor.author	Reith, Milda
dc.contributor.author	Zeltner, Lena
dc.contributor.author	Witt, Dennis
dc.contributor.author	Zuleger, Theresia
dc.contributor.author	Bornemann, Antje
dc.contributor.author	Ruf, Susanne
dc.contributor.author	Stingl, Katarina
dc.contributor.author	Weisschuh, Nicole
dc.contributor.author	Schäferhoff, Karin
dc.contributor.author	Haack, Tobias
dc.contributor.author	Alber, Michael Wolfgang Hans-Peter
dc.contributor.author	Schöls, Ludger
dc.date.accessioned	2023-08-14T07:17:01Z
dc.date.available	2023-08-14T07:17:01Z
dc.date.issued	2022
dc.identifier.issn	1422-0067
dc.identifier.uri	http://hdl.handle.net/10900/144130
dc.language.iso	en	de_DE
dc.publisher	Mdpi	de_DE
dc.relation.uri	http://dx.doi.org/10.3390/ijms23042271	de_DE
dc.subject.ddc	540	de_DE
dc.subject.ddc	570	de_DE
dc.title	A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_02224
utue.personen.roh	Reith, Milda
utue.personen.roh	Zeltner, Lena
utue.personen.roh	Schaeferhoff, Karin
utue.personen.roh	Witt, Dennis
utue.personen.roh	Zuleger, Theresia
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Bornemann, Antje
utue.personen.roh	Alber, Michael
utue.personen.roh	Ruf, Susanne
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Stingl, Katarina
utue.personen.roh	Weisschuh, Nicole
dcterms.isPartOf.ZSTitelID	International Journal of Molecular Sciences	de_DE
dcterms.isPartOf.ZS-Issue	Article 2271	de_DE
dcterms.isPartOf.ZS-Volume	23 (4)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE