| Identifier |
20120214_nanos_posters_101 |
| Title |
Bilateral optic atrophy with novel MTTL 3268 A>G homoplasmy - LHON variant or not? |
| Creator |
Hyosook Ahn; Hyun-Tack Lim; Hyejin Lee; Kwanghoon Shin; Gu-Hwan Kim |
| Affiliation |
(HA) (HL) (HL) (KS) Ophthalmology dept., Asan Medical Center, University of Ulsan, Seoul, Republic of Korea; (GK) Medical Genetic Center, Asan Medical Center, Seoul, Republic of Korea |
| Subject |
LHON; Bilateral Optic Atrophy; Novel Mutation |
| Description |
Leber's Hereditary Optic Neuropathy is well known as a maternally inherited eye disease with symptoms of bilateral visual loss that affect generally young male, related predominantly with mitochondrial DNA mutations such as ND1 G3460A, ND4 G11778A and ND6 T14484C. With data accumulated and bio-molecular-genetic methods developed, several novel mutations were reported. |
| Date |
2012-02-14 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2012 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2012: 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 2012. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s62n87sx |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
181917 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s62n87sx |
