Author:
Schatz Patrik,Sharon Dror,Al-Hamdani Sermed,Andréasson Sten,Larsen Michael
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference23 articles.
1. MacDonald IM, Lee T. Best vitelliform macular dystrophy. In: GeneReviews [Internet]. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1167/ . Accessed: December 4, 2013.
2. Yardley J, Leroy BP, Hart-Holden N et al (2004) Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci 45:3683–3689
3. Bitner H, Mizrahi-Meissonnier L, Griefner G, Erdinest I, Sharon D, Banin E (2011) A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. Invest Ophthalmol Vis Sci 52:5332–5338
4. Burgess R, Millar ID, Leroy BP et al (2008) Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 82:19–31
5. Burgess R, MacLaren RE, Davidson AE et al (2009) ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet 46:620–625
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