Učitavanje...
Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations
Genetic mutation of the human BEST1 gene, which encodes a Ca(2+)-activated Cl(-) channel (BEST1) predominantly expressed in retinal pigment epithelium (RPE), causes a spectrum of retinal degenerative disorders commonly known as bestrophinopathies. Previously, we showed that BEST1 plays an indispensa...
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| Izdano u: | eLife |
|---|---|
| Glavni autori: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
eLife Sciences Publications, Ltd
2021
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8169119/ https://ncbi.nlm.nih.gov/pubmed/34061021 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.67622 |
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