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AuthorHedergott, A.dc.contributor.author
AuthorVolk, A. E.dc.contributor.author
AuthorHerkenrath, P.dc.contributor.author
AuthorThiele, H.dc.contributor.author
AuthorFricke, J.dc.contributor.author
AuthorAltmueller, J.dc.contributor.author
AuthorNuernberg, P.dc.contributor.author
AuthorKubisch, C.dc.contributor.author
AuthorNeugebauer, A.dc.contributor.author
Date of accession2019-12-11T07:51:58Zdc.date.accessioned
Available in OPARU since2019-12-11T07:51:58Zdc.date.available
Date of first publication2015dc.date.issued
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
KeywordNMNAT1dc.subject
KeywordLCAdc.subject
KeywordMacular atrophydc.subject
KeywordWhole exome sequencingdc.subject
KeywordMUTATIONSdc.subject
KeywordPHENOTYPEdc.subject
KeywordWLD(S)dc.subject
Dewey Decimal GroupDDC 610 / Medicine & healthdc.subject.ddc
TitleClinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literaturedc.title
Resource typeWissenschaftlicher Artikeldc.type
InstitutionUKU. Institut für Humangenetikuulm.affiliationSpecific
DCMI TypeTextuulm.typeDCMI
CategoryPublikationsnachweiseuulm.category
DOI (external)10.1007/s00417-015-3174-0dc.identifier.doiExternal
Source - Title of sourceGraefes Archive for Clinical and Experimental Ophthalmologysource.title
Source - Place of publicationSpringersource.publisher
Source - Volume253source.volume
Source - Issue12source.issue
Source - Year2015source.year
Source - From page2239source.fromPage
Source - To page2246source.toPage
Source - ISSN0721-832Xsource.identifier.issn
Source - eISSN1435-702Xsource.identifier.eissn
Suitable communityUniversitätsklinikum Ulmuulm.community
WoS000365426900022uulm.identifier.wos
University Bibliographyjauulm.unibibliographie


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