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Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations

PURPOSE: Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone–rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). The purpose of t...

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Publicado no:Mol Vis
Main Authors: Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5389339/
https://ncbi.nlm.nih.gov/pubmed/28442884
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