Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Daoud, Hussein; Tetreault, Martine; Gibson, William; Guerrero, Kether; Cohen, Ana; Gburek-Augustat, Janina; Synofzik, Matthis; Brais, Bernard; Stevens, Cathy A.; Sanchez-Carpintero, Rocio; Goizet, Cyril; Naidu, Sakkubai; Vanderver, Adeline; Bernard, Genevieve

dc.contributor.author	Gburek-Augustat, Janina	de_DE
dc.contributor.author	Synofzik, Matthis	de_DE
dc.date.accessioned	2013-07-18T09:58:59Z
dc.date.available	2013-07-18T09:58:59Z
dc.date.issued	2013	de_DE
dc.identifier.issn	0022-2593	de_DE
dc.identifier.uri	http://hdl.handle.net/10900/36080
dc.language.iso	en	en
dc.publisher	Bmj Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1136/jmedgenet-2012-101357	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 POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism	de_DE
dc.type	Article	de_DE
utue.quellen.id	20130315161744_00019	de_DE
utue.publikation.seiten	194-197	de_DE
utue.personen.roh	Daoud, Hussein	de_DE
utue.personen.roh	Tetreault, Martine	de_DE
utue.personen.roh	Gibson, William	de_DE
utue.personen.roh	Guerrero, Kether	de_DE
utue.personen.roh	Cohen, Ana	de_DE
utue.personen.roh	Gburek-Augustat, Janina	de_DE
utue.personen.roh	Synofzik, Matthis	de_DE
utue.personen.roh	Brais, Bernard	de_DE
utue.personen.roh	Stevens, Cathy A.	de_DE
utue.personen.roh	Sanchez-Carpintero, Rocio	de_DE
utue.personen.roh	Goizet, Cyril	de_DE
utue.personen.roh	Naidu, Sakkubai	de_DE
utue.personen.roh	Vanderver, Adeline	de_DE
utue.personen.roh	Bernard, Genevieve	de_DE
dcterms.isPartOf.ZSTitelID	Journal of Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	50	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE