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Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies
Bestrophinopathies are a group of clinically distinct inherited retinal dystrophies that typically affect the macular region, an area synonymous with central high acuity vision. This spectrum of disorders is caused by mutations in bestrophin1 (BEST1), a protein thought to act as a Ca(2+)-activated C...
Autores principales: | Singh Grewal, Simranjeet, Smith, Joseph J., Carr, Amanda-Jayne F. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934022/ https://www.ncbi.nlm.nih.gov/pubmed/33738427 http://dx.doi.org/10.1177/2515841421997191 |
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