Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant-Reference-Cited by-同舟云学术

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

Published:2014-12-30 Issue:1 Volume:36 Page:43-47
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bax Nathalie M.¹,Sangermano Riccardo²³,Roosing Susanne²³,Thiadens Alberta A.H.J.⁴,Hoefsloot Lies H.²,van den Born L. Ingeborgh⁵,Phan Milan¹,Klevering B. Jeroen¹,Westeneng-van Haaften Carla¹,Braun Terry A.⁶⁷,Zonneveld-Vrieling Marijke N.²,de Wijs Ilse²,Mutlu Merve²,Stone Edwin M.⁶⁸,den Hollander Anneke I.¹²³,Klaver Caroline C.W.⁴⁹,Hoyng Carel B.¹,Cremers Frans P.M.¹²

Affiliation:

1. Department of Ophthalmology; Radboud University Medical Center; Nijmegen The Netherlands

2. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

3. Radboud Institute for Molecular Life Sciences; Radboud University; Nijmegen The Netherlands

4. Department of Ophthalmology; Erasmus Medical Center; Rotterdam The Netherlands

5. The Rotterdam Eye Hospital; Rotterdam The Netherlands

6. Department of Ophthalmology and Visual Sciences; The University of Iowa Carver College of Medicine; Iowa City Iowa

7. Department of Biomedical Engineering; The University of Iowa Carver College of Medicine; Iowa City Iowa

8. Howard Hughes Medical Institute; University of Iowa; Iowa City Iowa

9. Department of Epidemiology; Erasmus Medical Centre; Rotterdam The Netherlands

Funder

Foundation Fighting Blindness

FP7-PEOPLE-2012-ITN

Macula Vision Research Foundation

MD Fonds

Nijmeegse Oogonderzoek Stichting

Prof. Dr. H.J. Flieringa Foundation SWOO

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease;Braun;Hum Mol Genet,2013

4. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene;Burke;Invest Ophthalmol Vis Sci,2012

5. Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290;Collin;Mol Ther Nucleic Acids,2012

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