Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Habarou, Florence; Hamel, Yamina; Haack, Tobias B.; Feichtinger, Rene G.; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cecile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clement; Eisermann, Monika; Boutron, Audrey; Chretien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnes; Kolker, Stefan; Rodenburg, Richard J.; Korenke, G. Christoph; Meitinger, Thomas; Strom, Tim M.; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A.; de Lonlay, Pascale

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2019-05-21T08:01:51Z
dc.date.available	2019-05-21T08:01:51Z
dc.date.issued	2017
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/88851
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2017.07.001	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190131163842_01667
utue.publikation.seiten	283-290	de_DE
utue.personen.roh	Habarou, Florence
utue.personen.roh	Hamel, Yamina
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Feichtinger, Rene G.
utue.personen.roh	Lebigot, Elise
utue.personen.roh	Marquardt, Iris
utue.personen.roh	Busiah, Kanetee
utue.personen.roh	Laroche, Cecile
utue.personen.roh	Madrange, Marine
utue.personen.roh	Grisel, Coraline
utue.personen.roh	Pontoizeau, Clement
utue.personen.roh	Eisermann, Monika
utue.personen.roh	Boutron, Audrey
utue.personen.roh	Chretien, Dominique
utue.personen.roh	Chadefaux-Vekemans, Bernadette
utue.personen.roh	Barouki, Robert
utue.personen.roh	Bole-Feysot, Christine
utue.personen.roh	Nitschke, Patrick
utue.personen.roh	Goudin, Nicolas
utue.personen.roh	Boddaert, Nathalie
utue.personen.roh	Nemazanyy, Ivan
utue.personen.roh	Delahodde, Agnes
utue.personen.roh	Kolker, Stefan
utue.personen.roh	Rodenburg, Richard J.
utue.personen.roh	Korenke, G. Christoph
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Prokisch, Holger
utue.personen.roh	Rotig, Agnes
utue.personen.roh	Ottolenghi, Chris
utue.personen.roh	Mayr, Johannes A.
utue.personen.roh	de Lonlay, Pascale
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	101	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE