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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Ther Nucleic Acids |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society of Gene & Cell Therapy
2020
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| Θέματα: | |
| 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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