Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

El-Asrag, ME, Sergouniotis, PI, McKibbin, M et al. (16 more authors) (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics, 96 (6). 948 - 954. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • El-Asrag, ME
  • Sergouniotis, PI
  • McKibbin, M
  • Plagnol, V
  • Sheridan, E
  • Waseem, N
  • Abdelhamed, Z
  • McKeefry, D
  • Van Schil, K
  • Poulter, JA
  • UK Inherited Retinal Disease Consortium,
  • Johnson, CA
  • Carr, IM
  • Leroy, BP
  • De Baere, E
  • Inglehearn, CF
  • Webster, AR
  • Toomes, C
  • Ali, M
Copyright, Publisher and Additional Information: © 2015 The American Society of Human Genetics. All rights reserved.This is an author produced version of a paper published in American Journal of Human Genetics. Uploaded in accordance with the publisher's self-archiving policy
Dates:
  • Published: 4 June 2015
  • Accepted: 13 April 2015
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 21 Sep 2015 13:48
Last Modified: 19 Apr 2017 13:27
Published Version: http://dx.doi.org/10.1016/j.ajhg.2015.04.006
Status: Published
Publisher: Cell Press
Identification Number: https://doi.org/10.1016/j.ajhg.2015.04.006
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