Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Singh Grewal, Simranjeet, Smith, Joseph J., Carr, Amanda-Jayne F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
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