De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Park, Joohyun; Flores, Bianca R.; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B.

dc.contributor.author	Park, Joohyun
dc.contributor.author	Küpper, Hanna
dc.contributor.author	Rautenberg, Maren
dc.contributor.author	Deininger, Natalie
dc.contributor.author	Weichselbaum, Annette
dc.contributor.author	Grimm, Alexander
dc.contributor.author	Sturm, Marc
dc.contributor.author	Grasshoff, Ute
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2020-09-23T12:13:54Z
dc.date.available	2020-09-23T12:13:54Z
dc.date.issued	2020
dc.identifier.issn	1468-6244
dc.identifier.uri	http://hdl.handle.net/10900/107078
dc.language.iso	en	de_DE
dc.publisher	Bmj Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1136/jmedgenet-2019-106273	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200715072417_00990
utue.publikation.seiten	283-288	de_DE
utue.personen.roh	Park, Joohyun
utue.personen.roh	Flores, Bianca R.
utue.personen.roh	Scherer, Katalin
utue.personen.roh	Kuepper, Hanna
utue.personen.roh	Rossi, Mari
utue.personen.roh	Rupprich, Katrin
utue.personen.roh	Rautenberg, Maren
utue.personen.roh	Deininger, Natalie
utue.personen.roh	Weichselbaum, Annette
utue.personen.roh	Grimm, Alexander
utue.personen.roh	Sturm, Marc
utue.personen.roh	Grasshoff, Ute
utue.personen.roh	Delpire, Eric
utue.personen.roh	Haack, Tobias B.
dcterms.isPartOf.ZSTitelID	Journal of Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	4	de_DE
dcterms.isPartOf.ZS-Volume	57	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE