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

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SHORT COMMUNICATION: A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase β-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa

By Saga Masamichi   Mashima Yukihiko   Akeo Kiyoshi   Kudoh Jun   Oguchi Yoshihisa   Shimizu Nobuyoshi  

Current Eye Research, Vol. 17, Iss. 3, 1998-03 ,pp. : 332-335

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Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa

By Mashima Yukihiko   Saga Masamichi   Akeo Kiyoshi   Oguchi Yoshihisa  

Ophthalmic Genetics, Vol. 22, Iss. 1, 2001-03 ,pp. : 43-47

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A novel nonsense mutation in Rhodopsin gene in two Indonesian Families with Autosomal Recessive Retinitis Pigmentosa

By Kartasasmita Arief   Fujiki Keiko   Iskandar Erwin   Sovani Iwan   Fujimaki Takuro   Murakami Akira  

Ophthalmic Genetics, Vol. 32, Iss. 1, 2011-03 ,pp. : 57-63

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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  

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

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