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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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Detalles Bibliográficos
Autores principales:	Yamada, Rika, Takagi, Rina, Iwamoto, Sadahiko, Shimada, Shoichi, Kakehashi, Akihiro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7971447/ https://www.ncbi.nlm.nih.gov/pubmed/33767958 http://dx.doi.org/10.4103/tjo.tjo_37_20

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