Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter protein. Over the past few years, we and others have identified several pathogenic variants that reside within the introns of...

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Bibliographic Details
Main Authors: Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
ABCA4
antisense oligonucleotides
intronic mutations
splicing
Stargardt disease
iPSC
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253120301682

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http://www.sciencedirect.com/science/article/pii/S2162253120301682

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