Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease-Reference-Cited by-同舟云学术

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Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

Published:2018-05-07 Issue:6 Volume:59 Page:2305
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Garces Fabian¹,Jiang Kailun²,Molday Laurie L.¹,Stöhr Heidi³,Weber Bernhard H.³,Lyons Christopher J.²,Maberley David²,Molday Robert S.¹²

Affiliation:

1. Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada

2. Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada

3. Institute of Human Genetics, University of Regensburg, Regensburg, Germany

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 50 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease;Journal of Biological Chemistry;2024-09

2. Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies;Investigative Ophthalmology & Visual Science;2024-08-01

3. Virus-like particles as robust tools for functional assessment: Deciphering the pathogenicity of ABCA4 genetic variants of uncertain significance;Journal of Biological Chemistry;2024-08

4. Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance;Ophthalmologica;2024-07-23

5. The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease;Diagnostics;2024-07-17

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