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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Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group 2016
Ábhair:
Article
Rochtain Ar Líne: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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