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

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

Publisher: Informa Healthcare

ISSN: 1381-6810

Source: Ophthalmic Genetics, Vol.21, Iss.4, 2000-12, pp. : 197-209

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