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Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.
Marmorstein AD, Johnson AA, Bachman LA, Andrews-Pfannkoch C, Knudsen T, Gilles BJ, Hill M, Gandhi JK, Marmorstein LY, Pulido JS. Marmorstein AD, et al. Among authors: Marmorstein LY. Sci Rep. 2018 Mar 14;8(1):4487. doi: 10.1038/s41598-018-21651-z. Sci Rep. 2018. PMID: 29540715 Free PMC article.
Retinitis pigmentosa associated with a mutation in BEST1.
Dalvin LA, Abou Chehade JE, Chiang J, Fuchs J, Iezzi R, Marmorstein AD. Dalvin LA, et al. Am J Ophthalmol Case Rep. 2016 Mar 30;2:11-17. doi: 10.1016/j.ajoc.2016.03.005. eCollection 2016 Jul. Am J Ophthalmol Case Rep. 2016. PMID: 29503890 Free PMC article.
Bestrophin 1 and retinal disease.
Johnson AA, Guziewicz KE, Lee CJ, Kalathur RC, Pulido JS, Marmorstein LY, Marmorstein AD. Johnson AA, et al. Prog Retin Eye Res. 2017 May;58:45-69. doi: 10.1016/j.preteyeres.2017.01.006. Epub 2017 Jan 30. Prog Retin Eye Res. 2017. PMID: 28153808 Free PMC article. Review.
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