<i>ABCA4</i> c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease-Reference-Cited by-同舟云学术

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Published:2022-04-27 Issue:4 Volume:63 Page:20
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Corradi Zelia¹²,Salameh Manar³⁴,Khan Mubeen¹²,Héon Elise⁵⁶⁷,Mishra Ketan¹²,Hitti-Malin Rebekkah J.¹²,AlSwaiti Yahya³,Aslanian Alice³,Banin Eyal⁴,Brooks Brian P.⁸,Zein Wadih M.⁸,Hufnagel Robert B.⁸,Roosing Susanne¹²,Dhaenens Claire‐Marie¹⁹,Sharon Dror⁴,Cremers Frans P. M.¹²,AlTalbishi Alaa³

Affiliation:

1. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

2. Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands

3. St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine

4. Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel

5. Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada

6. Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada

7. Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada

8. Ophthalmic Genetics and Visual Function Branch, National Eye Institutes, National Institutes of Health, Bethesda, Maryland, United States

9. Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, Lille, France

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference73 articles.

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2. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat Genet,1997

3. In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases;Cornelis;Hum Mutat,2017

4. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR;Cremers;Hum Mol Genet,1998

5. Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus;Rozet;J Med Genet,1999

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1. Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort;Gene;2024-01

2. Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability;Human Genetics and Genomics Advances;2023-10

3. ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease;Frontiers in Genetics;2023-09-07