Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele, S, Smith, C orcid.org/0000-0001-8320-5105, Karali, M et al. (24 more authors) (2019) Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (6). pp. 1319-1329. ISSN 1098-3600

Abstract

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Copyright, Publisher and Additional Information: © The Author(s) 2018. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Keywords: RAX2; homeobox-containing transcription factor; loss of function; retinitis pigmentosa; novel ARRP gene
Dates:
  • Published: June 2019
  • Accepted: 9 October 2018
  • Published (online): 31 October 2018
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Funding Information:
FunderGrant number
Fight for SightGR586
Depositing User: Symplectic Publications
Date Deposited: 06 Nov 2018 11:53
Last Modified: 06 Jun 2019 14:18
Status: Published
Publisher: Springer Nature
Identification Number: https://doi.org/10.1038/s41436-018-0345-5
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