Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies

Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 (BEST1) gene affecting anion transport through the plasma membrane...

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Detalles Bibliográficos
Autores principales: Nachtigal, Anna-Lena, Milenkovic, Andrea, Brandl, Caroline, Schulz, Heidi L., Duerr, Lisa M. J., Lang, Gabriele E., Reiff, Charlotte, Herrmann, Philipp, Kellner, Ulrich, Weber, Bernhard H.F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7084480/
https://www.ncbi.nlm.nih.gov/pubmed/32111077
http://dx.doi.org/10.3390/ijms21051597

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7084480/
https://www.ncbi.nlm.nih.gov/pubmed/32111077
http://dx.doi.org/10.3390/ijms21051597

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