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

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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Bibliographic Details
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.
Format: Online
Language:English
Published: Nature Publishing Group 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031956/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031956/

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