Citations for
1ARRP2, PDE6B
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S.
Int J Mol Sci. Feb 27;22(5):2374. doi: 10.3390/ijms22052374. 2021
2ARRP2, PDE6B
Novel mutations in PDE6B causing human retinitis pigmentosa.
Cheng LL, Han RY, Yang FY, Yu XP, Xu JL, Min QJ, Tian J, Ge XL, Zheng SS, Lin YW, Zheng YH, Qu J, Gu F.
Int J Ophthalmol Aug 18;9(8):1094-9. doi: 10.18240/ijo.2016.08.02. 2016
3ARRP2, 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
4ARRP2, PDE6B
Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene.
Piriev NI, et al.
Invest Ophthalmol Vis Sci 39 : 463-470. 1998
5ARRP2, PDE6B
A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.
Valverde D, et al.
Hum Genet 97 : 35-38. 1996
6ARRP2, PDE6B
Identification of a novel R552Q mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
Valverde D, et al.
Hum Mutat 8 : 393. 1996
7ARRP2, PDE6B
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
Danciger M, et al.
Genomics 30 : 1-7. 1995
8ARRP2, PDE6B
Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.
Bays M, et al.
Hum Mutat 5 : 228-234. 1995
9ARRP2, PDE6B
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
McLaughlin ME, et al.
Proc Natl Acad Sci U S A 92 : 3249-3253. 1995
10ARRP2
Mutations in the beta subunit of phosphodiesterase in patients with autosomal recessive retinitis pigmentosa.
McLaughlin ME, et al.
Invest Ophthalmol Vis Sci 34 : 1148. 1993
11ARRP2, PDE6B
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
McLaughlin ME, et al.
Nat Genet 4 : 130-133. 1993