Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa

Chizzolini M(2011)Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking Curr Genom 12 260-266

Galan A(2014)“RetinoGenetics”: a comprehensive mutation database for genes related to inherited retinal degeneration Database 22 248-254

Milan E(1999)Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa Nat Genet 368 1795-1809

Sebastiani A(2006)Retinitis pigmentosa Lancet 43 22-32

Costagliola C(2002)Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors Invest Ophthalmol Vis Sci 86 328-332

Parmeggiani F(2002)A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa Br J Ophthalmol 41 1898-1908

Ran X(2000)Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa Invest Ophthalmol Vis Sci 8 2121-2128

Cai WJ(1999)Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa Hum Mol Genet 42 2217-2224

Huang XF(2001)Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1) Invest Ophthalmol Vis Sci 44 3593-3597

Liu Q(2003)De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa Invest Ophthalmol Vis Sci 137 1137-1139

Chizzolini M(2011)Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking Curr Genom 12 260-266

Galan A(2014)“RetinoGenetics”: a comprehensive mutation database for genes related to inherited retinal degeneration Database 22 248-254

Milan E(1999)Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa Nat Genet 368 1795-1809

Sebastiani A(2006)Retinitis pigmentosa Lancet 43 22-32

Costagliola C(2002)Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors Invest Ophthalmol Vis Sci 86 328-332

Parmeggiani F(2002)A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa Br J Ophthalmol 41 1898-1908

Ran X(2000)Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa Invest Ophthalmol Vis Sci 8 2121-2128

Cai WJ(1999)Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa Hum Mol Genet 42 2217-2224

Huang XF(2001)Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1) Invest Ophthalmol Vis Sci 44 3593-3597

Liu Q(2003)De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa Invest Ophthalmol Vis Sci 137 1137-1139