Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Autor:	Tjon-Fo-Sang, Martha J.H.1, van den Born, L. Ingeborgh1,2, Pierrache, Laurence H.M.1,2,3,4, Schuil, Jose5, Schalij, Nicoline6, Breuning, Martijn H.7, Fischer, Gratia M.8, Klaver, Caroline C.W.3,4,9, Kimchi, Adva9, Obolensky, Alexey9, Beryozkin, Avigail9, Banin, Eyal9, Sharon, Dror9, Ratnapriya, Rinki9, Swaroop, Anand9, Roberts, Lisa9, Ramesar, Raj S.9, Bongers, Ernie M.H.F.9, Haer-Wigman, Lonneke9, Cremers, Frans P.M.9
Zdroj:	Ophthalmology. Jul2017, Vol. 124 Issue 7, p992-1003. 12p.
Databáze:	Academic Search Ultimate
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