| Author | Hedergott, A. | dc.contributor.author |
| Author | Volk, A. E. | dc.contributor.author |
| Author | Herkenrath, P. | dc.contributor.author |
| Author | Thiele, H. | dc.contributor.author |
| Author | Fricke, J. | dc.contributor.author |
| Author | Altmueller, J. | dc.contributor.author |
| Author | Nuernberg, P. | dc.contributor.author |
| Author | Kubisch, C. | dc.contributor.author |
| Author | Neugebauer, A. | dc.contributor.author |
| Date of accession | 2019-12-11T07:51:58Z | dc.date.accessioned |
| Available in OPARU since | 2019-12-11T07:51:58Z | dc.date.available |
| Date of first publication | 2015 | dc.date.issued |
| Language | en | dc.language.iso |
| Publisher | Universität Ulm | dc.publisher |
| Keyword | NMNAT1 | dc.subject |
| Keyword | LCA | dc.subject |
| Keyword | Macular atrophy | dc.subject |
| Keyword | Whole exome sequencing | dc.subject |
| Keyword | MUTATIONS | dc.subject |
| Keyword | PHENOTYPE | dc.subject |
| Keyword | WLD(S) | dc.subject |
| Dewey Decimal Group | DDC 610 / Medicine & health | dc.subject.ddc |
| Title | Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature | dc.title |
| Resource type | Wissenschaftlicher Artikel | dc.type |
| Institution | UKU. Institut für Humangenetik | uulm.affiliationSpecific |
| DCMI Type | Text | uulm.typeDCMI |
| Category | Publikationsnachweise | uulm.category |
| DOI (external) | 10.1007/s00417-015-3174-0 | dc.identifier.doiExternal |
| Source - Title of source | Graefes Archive for Clinical and Experimental Ophthalmology | source.title |
| Source - Place of publication | Springer | source.publisher |
| Source - Volume | 253 | source.volume |
| Source - Issue | 12 | source.issue |
| Source - Year | 2015 | source.year |
| Source - From page | 2239 | source.fromPage |
| Source - To page | 2246 | source.toPage |
| Source - ISSN | 0721-832X | source.identifier.issn |
| Source - eISSN | 1435-702X | source.identifier.eissn |
| Suitable community | Universitätsklinikum Ulm | uulm.community |
| WoS | 000365426900022 | uulm.identifier.wos |
| University Bibliography | ja | uulm.unibibliographie |
