Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS

By Ekström Ulf   Ponjavic Vesna   Abrahamson Magnus   Nilsson-Ehle Peter   Andréasson Sten   Stenström Ingeborg   Ehinger Berndt  

Ophthalmic Genetics, Vol. 19, Iss. 1, 1998-03 ,pp. : 27-37

Informa Healthcare

Access to resources Recommend Favorite

Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa

By Zhao Kanxing   Xiong Shihong   Wang Li   Wang Lejin   Cui Yun   Wang Qing  

Ophthalmic Genetics, Vol. 22, Iss. 3, 2001-09 ,pp. : 155-162

Informa Healthcare

Access to resources Recommend Favorite

Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

By Utz Virginia M.   Beight Craig D.   Marino Meghan J.   Hagstrom Stephanie A.   Traboulsi Elias I.  

Ophthalmic Genetics, Vol. 34, Iss. 4, 2013-12 ,pp. : 183-188

Informa Healthcare

Access to resources Recommend Favorite

Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

By Reig Carlos   Trujillo M. José   Martinez-Gimeno Maria   Garcia-Sandoval Blanca   Calvo M. Teresa   Ayuso Carmen   Carballo Miguel  

Ophthalmic Genetics, Vol. 21, Iss. 2, 2000-06 ,pp. : 79-87

Informa Healthcare

Access to resources Recommend Favorite

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa

By Millá Elena   Héon Elise   Grounauer Pierre-Alain   Piguet Bertrand   Ducrey Nicolas   Stone Edwin M.   Schorderet Daniel F.   Munier Francis L.  

Ophthalmic Genetics, Vol. 19, Iss. 3, 1998-09 ,pp. : 131-139

Informa Healthcare

Access to resources Recommend Favorite