A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa-Reference-Cited by-同舟云学术

A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa

Published:2017-04-28 Issue:6 Volume:38 Page:562-566
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Latasiewicz Marta¹,Salvetti Anna Paola¹²,MacLaren Robert E.¹²

Affiliation:

1. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

2. Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, UK

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2017.1313994

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3. Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

4. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

5. Retinitis pigmentosa. (2016). Orphanet: retinitis pigmentosa. [online] Orpha.net. Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=791 [Accessed 13 Sep. 2016].

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1. Genetic therapies and potential therapeutic applications of CRISPR activators in the eye;Progress in Retinal and Eye Research;2024-09

2. Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867;Investigative Opthalmology & Visual Science;2022-05-17

3. Mutations of TOPORS identified in families with retinitis pigmentosa;Ophthalmic Genetics;2022-03-07

4. Genetic dissection of non-syndromic retinitis pigmentosa;Indian Journal of Ophthalmology;2022