Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
| Autor: | Pierrache, Laurence H.M., Kimchi, Adva, Ratnapriya, Rinki, Roberts, Lisa, Astuti, Galuh D.N., Obolensky, Alexey, Beryozkin, Avigail, Tjon-Fo-Sang, Martha J.H., Schuil, Jose, Klaver, Caroline C.W., Bongers, Ernie M.H.F., Haer-Wigman, Lonneke, Schalij, Nicoline, Breuning, Martijn H., Fischer, Gratia M., Banin, Eyal, Ramesar, Raj S., Swaroop, Anand, van den Born, L. Ingeborgh, Sharon, Dror, Cremers, Frans P.M. |
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| Zdroj: | In Ophthalmology July 2017 124(7):992-1003 |
| Databáze: | ScienceDirect |
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