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

DSpace Repository

Show simple item record

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


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record