Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Schmidt, Wolfgang M.; Rutledge, S. Lane; Schuele, Rebecca; Mayerhofer, Benjamin; Zuechner, Stephan; Boltshauser, Eugen; Bittner, Reginald E.

dc.contributor.author	Schüle-Freyer, Rebecca
dc.date.accessioned	2016-06-16T15:35:37Z
dc.date.available	2016-06-16T15:35:37Z
dc.date.issued	2015
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/70653
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2015.10.011	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20160427062602_00152
utue.publikation.seiten	855-861	de_DE
utue.personen.roh	Schmidt, Wolfgang M.
utue.personen.roh	Rutledge, S. Lane
utue.personen.roh	Schuele, Rebecca
utue.personen.roh	Mayerhofer, Benjamin
utue.personen.roh	Zuechner, Stephan
utue.personen.roh	Boltshauser, Eugen
utue.personen.roh	Bittner, Reginald E.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	97	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE