Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

[21] Kumaran N(1999)Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa Nat Genet 22 248-2242

[22] Georgiou M(2010)Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa Invest Ophthalmol Vis Sci 51 2236-625

[23] Bainbridge JWB(2016)Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases Mol Vis 22 610-118

[24] Jacobson SG(2004)A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay Nature 432 112-56

[25] Cideciyan AV(2018)Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa Doc Ophthalmol 137 47-1203

[26] Ratnakaram R(2019)Macular dystrophy and cone-rod dystrophy caused by mutations in the RP1 gene: extending the RP1 disease spectrum Invest Ophthalmol Vis Sci 60 1192-98

[27] Bainbridge JW(2010)Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development Hum Mol Genet 19 90-466

[28] Mehat MS(2000)Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa Nat Genet 25 462-258

[29] Sundaram V(2006)Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis Surv Ophthalmol 51 232-328

[30] McCulloch DL(2007)RPGR mutation analysis and disease: an update Hum Mutat 28 322-1898

[21] Kumaran N(1999)Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa Nat Genet 22 248-2242

[22] Georgiou M(2010)Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa Invest Ophthalmol Vis Sci 51 2236-625

[23] Bainbridge JWB(2016)Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases Mol Vis 22 610-118

[24] Jacobson SG(2004)A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay Nature 432 112-56

[25] Cideciyan AV(2018)Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa Doc Ophthalmol 137 47-1203

[26] Ratnakaram R(2019)Macular dystrophy and cone-rod dystrophy caused by mutations in the RP1 gene: extending the RP1 disease spectrum Invest Ophthalmol Vis Sci 60 1192-98

[27] Bainbridge JW(2010)Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development Hum Mol Genet 19 90-466

[28] Mehat MS(2000)Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa Nat Genet 25 462-258

[29] Sundaram V(2006)Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis Surv Ophthalmol 51 232-328

[30] McCulloch DL(2007)RPGR mutation analysis and disease: an update Hum Mutat 28 322-1898