| Identifier |
20200310_nanos_posters_216 |
| Title |
SSBP1 Missense Variants Cause Dominant Optic Atrophy with Variable Retinal Degeneration |
| Creator |
Neringa Jurkute, Gavin Arno, Anthony Robson, Anthony Moore, Matthias Hammerschmidt, Peter Nürnberg, Andrew Webster, Marcela Votruba, Patrick Yu-Wai-Man |
| Subject |
Genetic Disease, Optic Neuropathy |
| Description |
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy with a minimum prevalence of 1 in 25,000. About 60% of cases are due to pathogenic variants in the OPA1 gene. DOA is genetically heterogeneous, however in majority of cases the pathology seems to be limited to the retinal ganglion cells (RGC). |
| Date |
2020-03 |
| Language |
eng |
| Format |
application/pdf |
| Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2020: Poster Session II: Scientific Advancements |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6nw4tps |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Neringa Jurkute |
| Contributor Secondary |
Gavin Arno, Anthony Robson, Anthony Moore, Matthias Hammerschmidt, Peter Nürnberg, Andrew Webster, Marcela Votruba, Patrick Yu-Wai-Man |
| Setname |
ehsl_novel_nam |
| ID |
1542084 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6nw4tps |
