Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects. ADVIRC is caused by mutations in the Bestrophin1 (BEST1) gene, which encod...

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Publicado no:Sci Rep
Main Authors: Carter, David A., Smart, Matthew J. K., Letton, William V. G., Ramsden, Conor M., Nommiste, Britta, Chen, Li Li, Fynes, Kate, Muthiah, Manickam N., Goh, Pollyanna, Lane, Amelia, Powner, Michael B., Webster, Andrew R., da Cruz, Lyndon, Moore, Anthony T., Coffey, Peter J., Carr, Amanda-Jayne F.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5031956/
https://ncbi.nlm.nih.gov/pubmed/27653836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33792
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