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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Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene

By Zaremba Jacek   Feil Silke   Juszko Jadwiga   Myga Wieslawa   van Duijnhoven Gerard   Berger Wolfgang  

Ophthalmic Genetics, Vol. 19, Iss. 3, 1998-09 ,pp. : 157-164

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Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family

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Ophthalmic Research, Vol. 36, Iss. 2, 2004-03 ,pp. : 82-88

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A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration

By Ekström Ulf   Andréasson Sten   Ponjavic Vesna   Abrahamson Magnus   Sandgren Ola   Nilsson-Ehle Peter   Ehinger Berndt  

Ophthalmic Genetics, Vol. 19, Iss. 3, 1998-09 ,pp. : 149-156

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Identification of the p. R116H mutation in a Chinese Family with Novel Variable Cataract Phenotype: Evidence for a Mutational Hot Spot in αA-Crystallin Gene

By Wang Binbin   Wang Kai Jie   Zhu Si Quan   Wang Jing   Ma Xu  

Ophthalmic Genetics, Vol. 33, Iss. 3, 2012-09 ,pp. : 134-138

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