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2010 | 1 |
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Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
Hum Mol Genet. 1998 Sep;7(9):1517-25. doi: 10.1093/hmg/7.9.1517.
Hum Mol Genet. 1998.
PMID: 9700209
OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.
Chacon-Camacho OF, Camarillo-Blancarte L, Zenteno JC.
Chacon-Camacho OF, et al.
Ophthalmic Genet. 2011 Mar;32(1):24-30. doi: 10.3109/13816810.2010.524906. Epub 2010 Nov 15.
Ophthalmic Genet. 2011.
PMID: 21077756
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Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.
Milenkovic VM, Röhrl E, Weber BH, Strauss O.
Milenkovic VM, et al.
J Cell Sci. 2011 Sep 1;124(Pt 17):2988-96. doi: 10.1242/jcs.085878.
J Cell Sci. 2011.
PMID: 21878505
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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R.
Alapati A, et al.
Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359.
Invest Ophthalmol Vis Sci. 2014.
PMID: 25082885
Free PMC article.
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