Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

By Van Ghelue Marijke   Eriksen Hans L.   Ponjavic Vesna   Fagerheim Toril   Andréasson Sten   Forsman-Semb Kristina   Sandgren Ola   Holmgren Gösta   Tranebjærg Lisbeth  

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Mutation Screening of the GUCA1B Gene in Patients with Autosomal Dominant Cone and Cone Rod Dystrophy

By Kitiratschky Veronique B. D.   Glööckner Christian Johannes   Kohl Susanne  

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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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Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1

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Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy

By Meire F.M.   Van Genderen M.M.   Lemmens K.   Ens-Dokkum M.H.  

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