C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations
Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.
Additional indexing
| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
04 Faculty of Medicine > Institute of Medical Genetics 04 Faculty of Medicine > Neuroscience Center Zurich 04 Faculty of Medicine > Zurich Center for Integrative Human Physiology (ZIHP) 04 Faculty of Medicine > Institute of Medical Molecular Genetics |
| Dewey Decimal Classification: | 610 Medicine & health |
| Scopus Subject Areas: | Health Sciences > Ophthalmology
Life Sciences > Sensory Systems Life Sciences > Cellular and Molecular Neuroscience |
| Language: | English |
| Date: | 1 August 2017 |
| Deposited On: | 31 Aug 2017 09:40 |
| Last Modified: | 16 Mar 2025 02:41 |
| Publisher: | Association for Research in Vision and Ophthalmology |
| ISSN: | 0146-0404 |
| OA Status: | Gold |
| Free access at: | Publisher DOI. An embargo period may apply. |
| Publisher DOI: | https://doi.org/10.1167/iovs.17-21597 |
| PubMed ID: | 28763557 |
Permanent URL
https://doi.org/10.5167/uzh-139291
Download
Preview
- Content: Published Version
- Licence:
Links
Statistics
Citations
Dimensions.ai Metrics
Gerth-Kahlert, Christina