| Identifier |
20150224_nanos_posters_220 |
| Title |
GM2-gangliosidosis, AB variant |
| Creator |
Michael C. Brodsky; Deborah L. Renaud |
| Affiliation |
(MCB) (DLR) Mayo Clinic Department of Neurology, Rochester, MN; (MCB) (DLR) Mayo Clinic Department of Pediatrics, Rochester, MN; (MCB) Mayo Clinic Department of Ophthalmology, Rochester, MN; (DLR) Mayo Clinic Department of Medical Genetics Rochester, MN |
| Subject |
Gangliosidosis; Cherry; Red, Spot; Activator |
| Description |
GM2-gangliosidosis, AB variant is a rare form of GM2-gangliosidosis due to a deficiency of GM2 activator protein. This autosomal recessive disorder is caused by mutations in GM2A that can only be confirmed by molecular analysis. |
| Date |
2015-02-24 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2015 North American Neuro-Ophthalmology Society Annual Meeting |
| 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 2015. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6wh5ww2 |
| Setname |
ehsl_novel_nam |
| ID |
184937 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6wh5ww2 |
