High frequency of pathogenic rearrangements in SPG11 and extensive contribution of mutational hotspots and founder alleles

Guenther, Sven; Elert-Dobkowska, Ewelina; Soehn, Anne S.; Hinreiner, Sophie; Yoon, Grace; Heller, Raoul; Hellenbroich, Yorck; Huebner, Christian A.; Ray, Peter N.; Hehr, Ute; Bauer, Peter; Sulek, Anna; Beetz, Christian

dc.contributor.author	Söhn, Anne
dc.contributor.author	Bauer, Peter
dc.date.accessioned	2016-10-25T13:13:47Z
dc.date.available	2016-10-25T13:13:47Z
dc.date.issued	2016
dc.identifier.issn	1098-1004
dc.identifier.uri	http://hdl.handle.net/10900/72757
dc.language.iso	en	de_DE
dc.publisher	Wiley - Blackwell	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/humu.23000	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	High frequency of pathogenic rearrangements in SPG11 and extensive contribution of mutational hotspots and founder alleles	de_DE
dc.type	Article	de_DE
utue.quellen.id	20160915142648_00230
utue.publikation.seiten	703-709	de_DE
utue.personen.roh	Guenther, Sven
utue.personen.roh	Elert-Dobkowska, Ewelina
utue.personen.roh	Soehn, Anne S.
utue.personen.roh	Hinreiner, Sophie
utue.personen.roh	Yoon, Grace
utue.personen.roh	Heller, Raoul
utue.personen.roh	Hellenbroich, Yorck
utue.personen.roh	Huebner, Christian A.
utue.personen.roh	Ray, Peter N.
utue.personen.roh	Hehr, Ute
utue.personen.roh	Bauer, Peter
utue.personen.roh	Sulek, Anna
utue.personen.roh	Beetz, Christian
dcterms.isPartOf.ZSTitelID	Human Mutation	de_DE
dcterms.isPartOf.ZS-Issue	7	de_DE
dcterms.isPartOf.ZS-Volume	37	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE