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Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking
Mutations in bestrophin-1 (Best1) cause Best vitelliform macular dystrophy (BVMD), a dominantly inherited retinal degenerative disease. Best1 is a homo-oligomeric anion channel localized to the basolateral surface of retinal pigment epithelial (RPE) cells. A number of Best1 mutants mislocalize in Ma...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3820130/ https://ncbi.nlm.nih.gov/pubmed/23825107 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt316 |
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