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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Publicat a:Mol Ther Nucleic Acids
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Gene & Cell Therapy 2020
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Article
Accés en línia: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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