CNGB3 mutations cause severe rod dysfunction-Reference-Cited by-同舟云学术

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CNGB3 mutations cause severe rod dysfunction

Published:2017-09-20 Issue:1 Volume:39 Page:108-114
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Maguire J.¹,McKibbin M.²,Khan K.²,Kohl S.³,Ali M.⁴,McKeefry D.¹

Affiliation:

1. School of Optometry and Vision Sciences, University of Bradford, Bradford, West Yorkshire, UK

2. Department of Ophthalmology, St. James’s University Teaching Hospital, Leeds, UK

3. Molecular Genetics Laboratory, Institute of Ophthalmic Research, Centre of Ophthalmology, University Clinics Tubingen, Tubingen, Germany

4. Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, UK

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2017.1368087

Reference39 articles.

1. Achromatopsia

2. Clinical features of achromatopsia in Swedish patients with defined genotypes

3. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

4. In vivo imaging of the photoreceptor mosaic of a rod monochromat

5. Photoreceptor Structure and Function in Patients with Congenital Achromatopsia

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1. fMRI and gene therapy in adults with CNGB3 mutation;Brain Research Bulletin;2024-09

2. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia;Human Mutation;2022-04-14

3. Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families;Genes;2022-03-29

4. Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia;NeuroImage: Clinical;2022

5. Progressive and Stationary Disorders of Cone Function: Cone and Cone-Rod Dystrophies and Cone Dysfunction Syndromes;Albert and Jakobiec's Principles and Practice of Ophthalmology;2022

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