<i>ABCA4</i> Variant c.5714+5G>A in <i>Trans</i> With Null Alleles Results in Primary RPE Damage-Reference-Cited by-同舟云学术

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ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

Published:2023-09-20 Issue:12 Volume:64 Page:33
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Sajovic Jana¹²,Meglič Andrej¹,Corradi Zelia³⁴,Khan Mubeen³⁴⁵,Maver Aleš⁶,Vidmar Martina Jarc¹²,Hawlina Marko¹²,Cremers Frans P. M.³⁴,Fakin Ana¹²

Affiliation:

1. Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia

2. Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

3. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

4. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands

5. Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands

6. Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Cardiology and Cardiovascular Medicine

Reference69 articles.

1. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy;Molday;Nat Genet,2000

2. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily;Illing;J Biol Chem,1997

3. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments;Sun;Nat Genet,1997

4. Biosynthetic and immunochemical characterization of large protein in frog and cattle rod outer segment membranes;Papermaster;Exp Eye Res,1976

5. ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal;Quazi;Proc Natl Acad Sci USA,2014

Cited by 2 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. Detailed phenotype and long-term follow-up of RAB28- associated cone-rod dystrophy;Ophthalmic Genetics;2024-07-02

2. Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy;JAMA Ophthalmology;2024-05-01

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