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A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
Citation
Jones, JL and Corbett, MA and Yeaman, E and Zhao, D and Gecz, J and Gasperini, RJ and Charlesworth, JC and Mackey, DA and Elder, JE and Craig, JE and Burdon, KP, A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract, European Journal of Human Genetics ISSN 1018-4813 (2021) [Refereed Article]
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© The Author(s) 2021. This article is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) License, (https://creativecommons.org/licenses/by/4.0/), 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.
DOI: doi:10.1038/s41431-021-00889-8
Abstract
Item Details
Item Type: | Refereed Article |
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Keywords: | cataract, gene |
Research Division: | Biomedical and Clinical Sciences |
Research Group: | Ophthalmology and optometry |
Research Field: | Ophthalmology |
Objective Division: | Expanding Knowledge |
Objective Group: | Expanding knowledge |
Objective Field: | Expanding knowledge in the biomedical and clinical sciences |
UTAS Author: | Jones, JL (Dr Johanna Jones) |
UTAS Author: | Yeaman, E (Ms Elise Yeaman) |
UTAS Author: | Zhao, D (Ms Duran Zhao) |
UTAS Author: | Gasperini, RJ (Dr Rob Gasperini) |
UTAS Author: | Charlesworth, JC (Dr Jac Charlesworth) |
UTAS Author: | Burdon, KP (Professor Kathryn Burdon) |
ID Code: | 144750 |
Year Published: | 2021 |
Funding Support: | National Health and Medical Research Council (1185477) |
Web of Science® Times Cited: | 3 |
Deposited By: | Menzies Institute for Medical Research |
Deposited On: | 2021-06-08 |
Last Modified: | 2021-09-02 |
Downloads: | 19 View Download Statistics |
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