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

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

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Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family

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Mutations in TOPORS: A Rare Cause of Autosomal Dominant Retinitis Pigmentosa in Continental Europe?

By Schob Claudia   Orth Ulrike   Gal Andreas   Kindler Stefan   Chakarova Christina   Bhattacharya Shomi   Ruther Klaus  

Ophthalmic Genetics, Vol. 30, Iss. 2, 2009-06 ,pp. : 96-98

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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  

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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

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