SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

Roeben, Benjamin; Schuele, Rebecca; Ruf, Susanne; Bender, Benjamin; Alhaddad, Bader; Benkert, Tanja; Meitinger, Thomas; Reich, Selina; Boehringer, Judith; Langhans, Claus-Dieter; Vaz, Frederic M.; Wortmann, Saskia B.; Marquardt, Thorsten; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Schoels, Ludger; Synofzik, Matthis

dc.contributor.author	Röben, Benjamin
dc.contributor.author	Ruf, Susanne
dc.contributor.author	Bender, Benjamin
dc.contributor.author	Benkert, Tanja
dc.contributor.author	Reich, Selina
dc.contributor.author	Synofzik, Matthis
dc.contributor.author	Schüle-Freyer, Rebecca
dc.contributor.author	Böhringer, Judith
dc.contributor.author	Krägeloh-Mann, Ingeborg
dc.contributor.author	Schöls, Ludger
dc.date.accessioned	2020-01-28T14:56:05Z
dc.date.available	2020-01-28T14:56:05Z
dc.date.issued	2018
dc.identifier.issn	1468-6244
dc.identifier.uri	http://hdl.handle.net/10900/97474
dc.language.iso	en	de_DE
dc.publisher	Bmj Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1136/jmedgenet-2017-104622	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_04673
utue.publikation.seiten	39-47	de_DE
utue.personen.roh	Roeben, Benjamin
utue.personen.roh	Schuele, Rebecca
utue.personen.roh	Ruf, Susanne
utue.personen.roh	Bender, Benjamin
utue.personen.roh	Alhaddad, Bader
utue.personen.roh	Benkert, Tanja
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Reich, Selina
utue.personen.roh	Boehringer, Judith
utue.personen.roh	Langhans, Claus-Dieter
utue.personen.roh	Vaz, Frederic M.
utue.personen.roh	Wortmann, Saskia B.
utue.personen.roh	Marquardt, Thorsten
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Kraegeloh-Mann, Ingeborg
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Synofzik, Matthis
dcterms.isPartOf.ZSTitelID	Journal of Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	55	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE