Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Taylor, RL, Handley, MT orcid.org/0000-0001-7200-747X, Waller, S et al. (12 more authors) (2017) Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Investigative Ophthalmology & Visual Science, 58 (1). pp. 594-603. ISSN 0146-0404

Abstract

Metadata

Authors/Creators:
  • Taylor, RL
  • Handley, MT https://orcid.org/0000-0001-7200-747X
  • Waller, S
  • Campbell, C
  • Urquhart, J
  • Meynert, AM
  • Ellingford, JM
  • Donnelly, D
  • Wilcox, G
  • Lloyd, IC
  • Mundy, H
  • FitzPatrick, DR
  • Deshpande, C
  • Clayton-Smith, J
  • Black, GC
Copyright, Publisher and Additional Information: This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view a copy of this license, visit https://creativecommons.org/licenses/by-nc-nd/4.0/.
Keywords: congenital cataract; PEX11B; peroxisome biogenesis disorder; genomics; next-generation sequencing
Dates:
  • Published: 27 January 2017
  • Accepted: 1 December 2016
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: 22 Jan 2019 16:08
Last Modified: 22 Jan 2019 16:08
Status: Published
Publisher: Association for Research in Vision and Ophthalmology
Identification Number: https://doi.org/10.1167/iovs.16-21026

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