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Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant

Lookup NU author(s): Dr Steven Hardy, Dr Emma Watson, Sila Hopton, Professor Robert Taylor



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Publication metadata

Author(s): Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM

Publication type: Article

Publication status: Published

Journal: British Journal of Ophthalmology

Year: 2017

Volume: 101

Issue: 9

Pages: 1298-1302

Print publication date: 01/09/2017

Online publication date: 20/07/2017

Acceptance date: 01/06/2017

Date deposited: 26/07/2017

ISSN (print): 0007-1161

ISSN (electronic): 1468-2079

Publisher: BMJ


DOI: 10.1136/bjophthalmol-2017-310370


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