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Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1

BEST1 encodes Bestrophin-1 (Best1), a homo-oligomeric, integral membrane protein localized to the basolateral plasma membrane of the retinal pigment epithelium. Mutations in BEST1 cause five distinct retinal degenerative diseases, including adult vitelliform macular dystrophy (AVMD), autosomal reces...

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書誌詳細
主要な著者: Johnson, Adiv A., Lee, Yong-Suk, Chadburn, Andrew J., Tammaro, Paolo, Manson, Forbes D., Marmorstein, Lihua Y., Marmorstein, Alan D.
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4123461/
https://ncbi.nlm.nih.gov/pubmed/24560797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2014.02.006
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