A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Khanna, H, Davis, EE, Murga-Zamalloa, CA et al. (31 more authors) (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics, 41 (6). 739 - 745. ISSN 1061-4036

Abstract

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Authors/Creators:
  • Khanna, H
  • Davis, EE
  • Murga-Zamalloa, CA
  • Estrada-Cuzcano, A
  • Lopez, I
  • den Hollander, AI
  • Zonneveld, MN
  • Othman, MI
  • Waseem, N
  • Chakarova, CF
  • Maubaret, C
  • Diaz-Font, A
  • MacDonald, I
  • Muzny, DM
  • Wheeler, DA
  • Morgan, M
  • Lewis, LR
  • Logan, CV
  • Tan, PL
  • Beer, MA
  • Inglehearn, CF
  • Lewis, RA
  • Jacobson, SG
  • Bergmann, C
  • Beales, PL
  • Attie-Bitach, T
  • Johnson, CA
  • Otto, EA
  • Bhattacharya, SS
  • Hildebrandt, F
  • Gibbs, RA
  • Koenekoop, RK
  • Swaroop, A
  • Katsanis, N
Copyright, Publisher and Additional Information: (c) 2009, The Authors. This is an author produced version of a paper published in Nature Genetics. Uploaded in accordance with the publisher's self-archiving policy
Keywords: Bardet-Biedl syndrome; linked retinitis pigmentosa; Leber congenital amaurosis; Joubert syndrome; centrosomal protein; Mutation analysis; Meckel syndrome; early-onset; ciliary; gene
Dates:
  • Published: June 2009
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)
Depositing User: Symplectic Publications
Date Deposited: 01 May 2015 15:52
Last Modified: 20 Jan 2018 21:58
Published Version: http://dx.doi.org/10.1038/ng.366
Status: Published
Publisher: Nature Publishing Group
Identification Number: https://doi.org/10.1038/ng.366

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