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Ophthalmic Genetics Volume 42, 2021 - Issue 1
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Mutation Report

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family

Juanita Pappalardoa Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, AustraliaView further author information
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Rachael C. Heath Jefferya Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, AustraliaORCID Iconhttps://orcid.org/0000-0002-9078-7059View further author information
ORCID Icon,
Jennifer A. Thompsonb Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, AustraliaView further author information
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Jason Charnga Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, AustraliaView further author information
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Enid S. Chelvab Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, AustraliaView further author information
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Ian J. Constablea Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, AustraliaView further author information
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Terri L. McLarena Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Australia;b Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, AustraliaView further author information
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Tina M. Lameya Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Australia;b Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, AustraliaView further author information
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John N. De Roacha Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Australia;b Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, AustraliaView further author information
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Fred K. Chena Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Australia;b Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Australia;c Department of Ophthalmology, Royal Perth Hospital, Perth, Australia;d Department of Ophthalmology, Perth Children’s Hospital, Nedlands, AustraliaCorrespondence[email protected]
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Pages 62-70 | Received 29 Jul 2020, Accepted 26 Sep 2020, Published online: 13 Oct 2020

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Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family
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