Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
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Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s11596-024-2865-3.pdf
Reference32 articles.
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2. Marmorstein AD, Marmorstein LY, Rayborn M, et al. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci USA, 2000,97(23):12758–12763
3. Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet, 1998,19(3):241–247
4. Burgess R, Millar ID, Leroy BP, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet, 2008,82(1):19–31
5. Allikmets R, Seddon JM, Bernstein PS, et al. Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet, 1999,104(6):449–453
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