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Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings
PURPOSE: Autosomal recessive bestrophinopathy (ARB) is a disease that results from the mutations in the BEST1 gene. It is characterized by multifocal yellowish lipofuscin deposits, cystoid macular edema, and subretinal fluid. Among approximately 270 BEST1 mutations, only 40 that include both heteroz...
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| Publicado no: | Taiwan J Ophthalmol |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7971447/ https://ncbi.nlm.nih.gov/pubmed/33767958 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/tjo.tjo_37_20 |
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