| 1 | PDE6A, RP43
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| A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy
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| Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T.
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| Doc Ophthalmol. Aug;143(1):107-114. doi: 10.1007/s10633-021-09826-y. Epub 2021 Feb 21 2021
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| 2 | PDE6A, RP43
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| Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43).
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| Schön C, Sothilingam V, Mühlfriedel R, Garcia Garrido M, Beck SC, Tanimoto N, Wissinger B, Paquet-Durand F, Biel M, Michalakis S, Seeliger MW.
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| Hum Gene Ther. Dec;28(12):1180-1188. doi: 10.1089/hum.2017.156. 2017
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| 3 | PDE6A, RP43
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| Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype
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| Sothilingam V, Garcia Garrido M, Jiao K, Buena-Atienza E, Sahaboglu A, Trifunović D, Balendran S, Koepfli T, Mühlfriedel R, Schön C, Biel M, Heckmann A, Beck SC, Michalakis S, Wissinger B, Seeliger MW, Paquet-Durand F.
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| Hum Mol Genet. Oct 1;24(19):5486-99. doi: 10.1093/hmg/ddv275. Epub 2015 Jul 17 2015
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| 4 | PDE6A, RP43
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| Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation.
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| Tuntivanich N, Pittler SJ, Fischer AJ, Omar G, Kiupel M, Weber A, Yao S, Steibel JP, Khan NW, Petersen-Jones SM.
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| Invest Ophthalmol Vis Sci. 50(2):801-13 2009
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| 5 | PDE6A, RP43
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| Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
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| Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X, Shahzadi A, Amer M, Iqbal M, Hussnain T, Sieving PA, Riazuddin S, Hejtmancik JF.
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| Mol Vis 12:1283-91. 2006
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| 6 | ARRP2, PDE6A, PDE6B, RP43
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| Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
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| Dryja TP, et al.
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| Invest Ophthalmol Vis Sci 40(8):1859-65 1999
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| 7 | PDE6A, RP43
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| Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
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| Dryja TP, et al.
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| Proc Natl Acad Sci U S A 92 : 10177-10181. 1995
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| 8 | PDE6A, RP43
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| Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
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| Huang SH, et al.
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| Nat Genet 11 : 468-471. 1995
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