| Identifier |
20130212_nanos_posters_059 |
| Title |
First Cases of Dominant Optic Atrophy (DOA) in Saudi Arabia: A Report on a Novel Genetic Mutation |
| Creator |
Alberto Galvez-Ruiz |
| Affiliation |
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia |
| Subject |
Dominant Optic Atrophy; OPA-1; Congenital Optic Neuropathy |
| Description |
The majority of DOA cases (50-60% of the patients) are caused by mutations of the OPA-1 gene, which codes for a protein (dynamin-related GTPase) of the internal mitochondrial membrane. Currently, more than 200 pathogenic mutations in the OPA-1 gene have been described. Regardless, in large-scale studies, DOA in certain families has been related to other chromosomal loci, i.e., OPA-3, OPA-4, OPA-5 and OPA-7. |
| Date |
2013-02-12 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2013 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2013: Poster Presentations |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6rn6fh8 |
| Setname |
ehsl_novel_nam |
| ID |
183421 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6rn6fh8 |
