Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Varga, Rita-Eva; Schuele, Rebecca; Fadel, Hicham; Valenzuela, Irene; Speziani, Fiorella; Gonzalez, Michael; Rudenskaia, Galina; Nuernberg, Gudrun; Thiele, Holger; Altmueller, Janine; Alvarez, Victoria; Gamez, Josep; Garbern, James Y.; Nuernberg, Peter; Zuchner, Stephan; Beetz, Christian

dc.contributor.author	Schüle-Freyer, Rebecca
dc.date.accessioned	2013-12-09T10:10:41Z
dc.date.available	2013-12-09T10:10:41Z
dc.date.issued	2013
dc.identifier.issn	1059-7794
dc.identifier.uri	http://hdl.handle.net/10900/39152
dc.language.iso	en	en
dc.publisher	Wiley - Blackwell	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/humu.22309	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20130911224530_00666	de_DE
utue.publikation.seiten	860-863	de_DE
utue.personen.roh	Varga, Rita-Eva
utue.personen.roh	Schuele, Rebecca
utue.personen.roh	Fadel, Hicham
utue.personen.roh	Valenzuela, Irene
utue.personen.roh	Speziani, Fiorella
utue.personen.roh	Gonzalez, Michael
utue.personen.roh	Rudenskaia, Galina
utue.personen.roh	Nuernberg, Gudrun
utue.personen.roh	Thiele, Holger
utue.personen.roh	Altmueller, Janine
utue.personen.roh	Alvarez, Victoria
utue.personen.roh	Gamez, Josep
utue.personen.roh	Garbern, James Y.
utue.personen.roh	Nuernberg, Peter
utue.personen.roh	Zuchner, Stephan
utue.personen.roh	Beetz, Christian
dcterms.isPartOf.ZSTitelID	Human Mutation	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	34	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE