Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Khan, KN, El-Asrag, ME, Ku, CA et al. (18 more authors) (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology and Visual Science, 58 (7). pp. 2906-2914. ISSN 0146-0404

Abstract

Metadata

Authors/Creators:
  • Khan, KN
  • El-Asrag, ME
  • Ku, CA
  • Holder, GE
  • McKibbin, M
  • Arno, G
  • Poulter, JA
  • Carss, K
  • Bommireddy, T
  • Bagheri, S
  • Bakall, B
  • Scholl, HP
  • Raymond, FL
  • Toomes, C
  • Inglehearn, CF
  • Pennesi, ME
  • Moore, AT
  • Michaelides, M
  • Webster, AR
  • Ali, M
  • for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise,
Copyright, Publisher and Additional Information: © 2017 The Authors. This work is licensed under a Creative Commons Attribution 4.0 International License.
Keywords: macular degeneration, retinal dystrophy, DNA sequencing, electroretinography, immunohistology, photoreceptor synapse
Dates:
  • Published: June 2017
  • Accepted: 14 March 2017
  • Published (online): 6 June 2017
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)
Depositing User: Symplectic Publications
Date Deposited: 15 Jun 2017 12:00
Last Modified: 15 Jun 2017 12:00
Status: Published
Publisher: Association for Research in Vision and Ophthalmology
Identification Number: https://doi.org/10.1167/iovs.16-20608

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