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...
Main Authors: | , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-09-01
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Series: | Molecular Therapy: Nucleic Acids |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2162253120301682 |