| 1 | PDE6C, RCD7
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| Two novel PDE6C gene mutations in Chinese family with achromatopsia.
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| Yuan S, Qi R, Fang X, Wang X, Zhou L, Sheng X.
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| Ophthalmic Genet. Dec ;41(6):591-598. doi: 10.1080/13816810.2020.1802762. Epub 2020 Aug 12. 2020
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| 2 | PDE6C, RCD7
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| Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
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| Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S.
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| Hum Mutat. Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22. 2018
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| 3 | PDE6C, RCD7
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| Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.
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| Cheguru P, Majumder A, Artemyev NO.
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| Mol Cell Neurosci. Jan;64:1-8. doi: 10.1016/j.mcn.2014.10.007. Epub 2014 Nov 11 2015
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| 4 | PDE6C, RCD7
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| Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
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| Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S.
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| Hum Mol Genet 20(4):719-30. Epub 2010 Dec 1.
2011
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| 5 | CORD15, PDE6C, RCD7
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| Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
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| Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.
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| Am J Hum Genet 85(2):240-7. Epub 2009 Jul 16. 2009
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| 6 | PDE6C, RCD7
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| A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
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| Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B.
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| Proc Natl Acad Sci U S A 106(46):19581-6. Epub 2009 Nov 3.PMID: 19887631 2009
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