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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...

詳細記述

保存先:
書誌詳細
出版年:Mol Vis
主要な著者: Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P.
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5389339/
https://ncbi.nlm.nih.gov/pubmed/28442884
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