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Items: 3

Select item 63079161.

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

Amy S. Findlay, Roderick N. Carter, Becky Starbuck, Lisa McKie, Klára Nováková, Peter S. Budd, Margaret A. Keighren, Joseph A. Marsh, Sally H. Cross, Michelle M. Simon, Paul K. Potter, Nicholas M. Morton, Ian J. Jackson

Dis Model Mech. 2018 Dec 1; 11(12): dmm036426. Published online 2018 Dec 18. doi: 10.1242/dmm.036426

PMCID:: PMC6307916

Abstract Article

Select item 58684132.

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

Laurence H.M. Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh D.N. Astuti, Alexey Obolensky, Avigail Beryozkin, Martha J.H. Tjon-Fo-Sang, Jose Schuil, Caroline C.W. Klaver, Ernie M.H.F. Bongers, Lonneke Haer-Wigman, Nicoline Schalij, Martijn H. Breuning, Gratia M. Fischer, Eyal Banin, Raj S. Ramesar, Anand Swaroop, L. Ingeborgh van den Born, Dror Sharon, Frans P.M. Cremers

Ophthalmology. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Ophthalmology. 2017 Jul; 124(7): 992–1003. Published online 2017 Apr 13. doi: 10.1016/j.ophtha.2017.03.010