Functional Characterization of <i>ABCA4</i> Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies-Reference-Cited by-同舟云学术

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies

Published:2024-08-01 Issue:10 Volume:65 Page:2
ISSN:1552-5783
Container-title:Investigative Ophthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Aslaksen Sigrid¹²,Aukrust Ingvild¹²,Molday Laurie³,Holtan Josephine Prener⁴,Jansson Ragnhild Wivestad⁵,Berland Siren²,Rødahl Eyvind⁵⁶,Bredrup Cecilie⁵⁶,Bragadóttir Ragnheiður⁴⁷,Bratland Eirik¹²,Molday Robert S.³⁸,Knappskog Per Morten¹²

Affiliation:

1. Department of Clinical Science, University of Bergen, Bergen, Norway

2. Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway

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

4. Department of Ophthalmology, Oslo University Hospital, Oslo, Norway

5. Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway

6. Department of Clinical Medicine, University of Bergen, Bergen, Norway

7. Institute of Clinical Medicine, University of Oslo, Oslo, Norway

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

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Reference32 articles.

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3. An overview of the genetics of ABCA4 retinopathies, an evolving story;Al-Khuzaei;Genes,2021

4. The bisretinoids of retinal pigment epithelium;Sparrow;Prog Retin Eye Res,2012

5. Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations;Cremers;Prog Retin Eye Res,2020