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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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Detaylı Bibliyografya
Asıl Yazarlar: Johnson, Adiv A., Lee, Yong-Suk, Chadburn, Andrew J., Tammaro, Paolo, Manson, Forbes D., Marmorstein, Lihua Y., Marmorstein, Alan D.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2014
Konular:
Online Erişim: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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