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Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy
Autosomal recessive bestrophinopathy (ARB) is caused by mutations in the gene BEST1 which encodes bestrophin 1 (Best1), an anion channel expressed in retinal pigment epithelial (RPE) cells. It has been hypothesized that ARB represents the human null phenotype for BEST1 and that this occurs due to no...
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| Опубликовано в: : | Sci Rep |
|---|---|
| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group UK
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5852082/ https://ncbi.nlm.nih.gov/pubmed/29540715 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-21651-z |
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