Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene-Reference-Cited by-同舟云学术

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Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene

Published:2018-05-21 Issue:4 Volume:39 Page:508-511
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Gray Joanna Monika¹²,Orlans Harry Otway¹²,Shanks Morag³,Clouston Penny³,MacLaren Robert Elvis¹²

Affiliation:

1. Nuffield Laboratory of Ophthalmology & Oxford Biomedical Research Centre, University of Oxford, Oxford, UK

2. Oxford Eye Hospital, John Radcliffe Hospital, Oxford, UK

3. Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Funder

NIHR Oxford Biomedical Research Centre; Medical Research Council, Wellcome Trust

Medical Research Council

Wellcome Trust

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1474369

Reference25 articles.

1. IMPG2-Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement

2. Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

3. Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

4. Treatment of Leber Congenital Amaurosis Due toRPE65Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

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1. Genotype and Phenotype Characteristics of Major Genes Causing Inherited Retinal Diseases in Different Ethnic Groups of the Israeli Population;Essentials in Ophthalmology;2024

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

3. Onecut Regulates Core Components of the Molecular Machinery for Neurotransmission in Photoreceptor Differentiation;Frontiers in Cell and Developmental Biology;2021-03-18

4. On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies;Frontiers in Cell and Developmental Biology;2021-03-05

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