Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Taiwan J Ophthalmol
Main Authors: Yamada, Rika, Takagi, Rina, Iwamoto, Sadahiko, Shimada, Shoichi, Kakehashi, Akihiro
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer - Medknow 2021
Fag:
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!