Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Abrams, Alexander J.; Hufnagel, Robert B.; Rebelo, Adriana; Zanna, Claudia; Patel, Neville; Gonzalez, Michael A.; Campeanu, Ion J.; Griffin, Laurie B.; Groenewald, Saskia; Strickland, Alleene V.; Tao, Feifei; Speziani, Fiorella; Abreu, Lisa; Schuele, Rebecca; Caporali, Leonardo; La Morgia, Chiara; Maresca, Alessandra; Liguori, Rocco; Lodi, Raffaele; Ahmed, Zubair M.; Sund, Kristen L.; Wang, Xinjian; Krueger, Laura A.; Peng, Yanyan; Prada, Carlos E.; Prows, Cynthia A.; Schorry, Elizabeth K.; Antonellis, Anthony; Zimmerman, Holly H.; Abdul-Rahman, Omar A.; Yang, Yaping; Downes, Susan M.; Prince, Jeffery; Fontanesi, Flavia; Barrientos, Antonio; Nemeth, Andrea H.; Carelli, Valerio; Huang, Taosheng; Zuchner, Stephan; Dallman, Julia E.

dc.contributor.author	Schüle-Freyer, Rebecca
dc.date.accessioned	2015-09-10T09:56:01Z
dc.date.available	2015-09-10T09:56:01Z
dc.date.issued	2015
dc.identifier.issn	1061-4036
dc.identifier.uri	http://hdl.handle.net/10900/64727
dc.language.iso	en	en
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/ng.3354	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder	de_DE
dc.type	Article	de_DE
utue.quellen.id	20150901145020_00049
utue.publikation.seiten	926-	de_DE
utue.personen.roh	Abrams, Alexander J.
utue.personen.roh	Hufnagel, Robert B.
utue.personen.roh	Rebelo, Adriana
utue.personen.roh	Zanna, Claudia
utue.personen.roh	Patel, Neville
utue.personen.roh	Gonzalez, Michael A.
utue.personen.roh	Campeanu, Ion J.
utue.personen.roh	Griffin, Laurie B.
utue.personen.roh	Groenewald, Saskia
utue.personen.roh	Strickland, Alleene V.
utue.personen.roh	Tao, Feifei
utue.personen.roh	Speziani, Fiorella
utue.personen.roh	Abreu, Lisa
utue.personen.roh	Schuele, Rebecca
utue.personen.roh	Caporali, Leonardo
utue.personen.roh	La Morgia, Chiara
utue.personen.roh	Maresca, Alessandra
utue.personen.roh	Liguori, Rocco
utue.personen.roh	Lodi, Raffaele
utue.personen.roh	Ahmed, Zubair M.
utue.personen.roh	Sund, Kristen L.
utue.personen.roh	Wang, Xinjian
utue.personen.roh	Krueger, Laura A.
utue.personen.roh	Peng, Yanyan
utue.personen.roh	Prada, Carlos E.
utue.personen.roh	Prows, Cynthia A.
utue.personen.roh	Schorry, Elizabeth K.
utue.personen.roh	Antonellis, Anthony
utue.personen.roh	Zimmerman, Holly H.
utue.personen.roh	Abdul-Rahman, Omar A.
utue.personen.roh	Yang, Yaping
utue.personen.roh	Downes, Susan M.
utue.personen.roh	Prince, Jeffery
utue.personen.roh	Fontanesi, Flavia
utue.personen.roh	Barrientos, Antonio
utue.personen.roh	Nemeth, Andrea H.
utue.personen.roh	Carelli, Valerio
utue.personen.roh	Huang, Taosheng
utue.personen.roh	Zuchner, Stephan
utue.personen.roh	Dallman, Julia E.
dcterms.isPartOf.ZSTitelID	Nature Genetics	de_DE
dcterms.isPartOf.ZS-Issue	8	de_DE
dcterms.isPartOf.ZS-Volume	47	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE