Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

Elsayed, Liena E. O.; Mohammed, Inaam N.; Hamed, Ahlam A. A.; Elseed, Maha A.; Salih, Mustafa A. M.; Yahia, Ashraf; Siddig, Rayan A.; Amin, Mutaz; Koko, Mahmoud; Elbashir, Mustafa, I; Ibrahim, Muntaser E.; Brice, Alexis; Ahmed, Ammar E.; Stevanin, Giovanni

dc.contributor.author	Koko, Mahmoud
dc.date.accessioned	2019-09-16T13:29:29Z
dc.date.available	2019-09-16T13:29:29Z
dc.date.issued	2018
dc.identifier.issn	1471-2350
dc.identifier.uri	http://hdl.handle.net/10900/92828
dc.language.iso	en	en
dc.publisher	Biomed Central Ltd	de_DE
dc.relation.uri	http://dx.doi.org/10.1186/s12881-018-0592-y
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_02623
utue.personen.roh	Elsayed, Liena E. O.
utue.personen.roh	Mohammed, Inaam N.
utue.personen.roh	Hamed, Ahlam A. A.
utue.personen.roh	Elseed, Maha A.
utue.personen.roh	Salih, Mustafa A. M.
utue.personen.roh	Yahia, Ashraf
utue.personen.roh	Siddig, Rayan A.
utue.personen.roh	Amin, Mutaz
utue.personen.roh	Koko, Mahmoud
utue.personen.roh	Elbashir, Mustafa, I
utue.personen.roh	Ibrahim, Muntaser E.
utue.personen.roh	Brice, Alexis
utue.personen.roh	Ahmed, Ammar E.
utue.personen.roh	Stevanin, Giovanni
dcterms.isPartOf.ZSTitelID	Bmc Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	Article 9:72	de_DE
dcterms.isPartOf.ZS-Volume	19	de_DE
utue.fakultaet	04 Medizinische Fakultät