Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy : two case reports

Kloth, Katja; Synofzik, Matthis; Kernstock, Christoph; Schimpf-Linzenbold, Simone; Schuettauf, Frank; Neu, Axel; Wissinger, Bernd; Weisschuh, Nicole

dc.contributor.author	Kernstock, Christoph
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Weisschuh, Nicole
dc.contributor.author	Synofzik, Matthis
dc.date.accessioned	2020-05-25T07:13:13Z
dc.date.available	2020-05-25T07:13:13Z
dc.date.issued	2019
dc.identifier.issn	1471-2350
dc.identifier.uri	http://hdl.handle.net/10900/100876
dc.language.iso	en	de_DE
dc.publisher	Bmc	de_DE
dc.relation.uri	http://dx.doi.org/10.1186/s12881-019-0795-x	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy : two case reports	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190926111821_01763
utue.personen.roh	Kloth, Katja
utue.personen.roh	Synofzik, Matthis
utue.personen.roh	Kernstock, Christoph
utue.personen.roh	Schimpf-Linzenbold, Simone
utue.personen.roh	Schuettauf, Frank
utue.personen.roh	Neu, Axel
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Weisschuh, Nicole
dcterms.isPartOf.ZSTitelID	Bmc Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	Article 62	de_DE
dcterms.isPartOf.ZS-Volume	20	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE