Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease

Elpidorou, Marilena; Poulter, James A.; Szymanska, Katarzyna; Baron, Wia; Junger, Katrin; Boldt, Karsten; Ueffing, Marius; Green, Lydia; Livingston, John H.; Sheridan, Eammon G.; Johnson, Colin A.

dc.contributor.author	Junger, Katrin
dc.contributor.author	Boldt, Karsten
dc.contributor.author	Ueffing, Marius
dc.date.accessioned	2023-01-24T10:26:43Z
dc.date.available	2023-01-24T10:26:43Z
dc.date.issued	2022
dc.identifier.issn	1018-4813
dc.identifier.uri	http://hdl.handle.net/10900/135591
dc.language.iso	en	de_DE
dc.publisher	Springernature	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41431-022-01050-9	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_01874
utue.publikation.seiten	860-864	de_DE
utue.personen.roh	Elpidorou, Marilena
utue.personen.roh	Poulter, James A.
utue.personen.roh	Szymanska, Katarzyna
utue.personen.roh	Baron, Wia
utue.personen.roh	Junger, Katrin
utue.personen.roh	Boldt, Karsten
utue.personen.roh	Ueffing, Marius
utue.personen.roh	Green, Lydia
utue.personen.roh	Livingston, John H.
utue.personen.roh	Sheridan, Eammon G.
utue.personen.roh	Johnson, Colin A.
dcterms.isPartOf.ZSTitelID	European Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	7	de_DE
dcterms.isPartOf.ZS-Volume	30	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE