Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

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dc.contributor.author Haack, Tobias
dc.date.accessioned 2019-11-19T11:28:06Z
dc.date.available 2019-11-19T11:28:06Z
dc.date.issued 2018
dc.identifier.issn 1476-5438
dc.identifier.uri http://hdl.handle.net/10900/94988
dc.language.iso en de_DE
dc.publisher Nature Publishing Group de_DE
dc.relation.uri http://dx.doi.org/10.1038/s41431-017-0001-6 de_DE
dc.subject.ddc 570 de_DE
dc.subject.ddc 610 de_DE
dc.title Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency de_DE
dc.type Artikel de_DE
utue.quellen.id 20190321153956_03554
utue.publikation.seiten 407-419 de_DE
utue.personen.roh Puusepp, Sanna
utue.personen.roh Kovacs-Nagy, Reka
utue.personen.roh Alhaddad, Bader
utue.personen.roh Braunisch, Matthias
utue.personen.roh Hoffmann, Georg F.
utue.personen.roh Kotzaeridou, Urania
utue.personen.roh Lichvarova, Lucia
utue.personen.roh Liiv, Mailis
utue.personen.roh Makowski, Christine
utue.personen.roh Mandel, Merle
utue.personen.roh Meitinger, Thomas
utue.personen.roh Pajusalu, Sander
utue.personen.roh Rodenburg, Richard J.
utue.personen.roh Safiulina, Dzhamilja
utue.personen.roh Strom, Tim M.
utue.personen.roh Talvik, Inga
utue.personen.roh Vaarmann, Annika
utue.personen.roh Wilson, Callum
utue.personen.roh Kaasik, Allen
utue.personen.roh Haack, Tobias B.
utue.personen.roh Ounap, Katrin
dcterms.isPartOf.ZSTitelID European Journal of Human Genetics de_DE
dcterms.isPartOf.ZS-Issue 3 de_DE
dcterms.isPartOf.ZS-Volume 26 de_DE
utue.fakultaet 04 Medizinische Fakultät de_DE


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