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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Foilsithe in:Mol Ther Nucleic Acids
Main Authors: Khan, Mubeen, Arno, Gavin, Fakin, Ana, Parfitt, David A., Dhooge, Patty P.A., Albert, Silvia, Bax, Nathalie M., Duijkers, Lonneke, Niblock, Michael, Hau, Kwan L., Bloch, Edward, Schiff, Elena R., Piccolo, Davide, Hogden, Michael C., Hoyng, Carel B., Webster, Andrew R., Cremers, Frans P.M., Cheetham, Michael E., Garanto, Alejandro, Collin, Rob W.J.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society of Gene & Cell Therapy 2020
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7352060/
https://ncbi.nlm.nih.gov/pubmed/32653833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtn.2020.06.007
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