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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031956/
https://www.ncbi.nlm.nih.gov/pubmed/27653836
http://dx.doi.org/10.1038/srep33792

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031956/
https://www.ncbi.nlm.nih.gov/pubmed/27653836
http://dx.doi.org/10.1038/srep33792

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