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