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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Mol Ther Nucleic Acids
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Society of Gene & Cell Therapy 2020
Θέματα:
Article
Διαθέσιμο Online: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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