Most, if not all, diseases have an underlying genetic contribution, therefore all clinicians, as health care providers, must have a basic understanding of genetics and competency to care and educate patients on their diseases, especially diseases with
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GUCY2D Gene Mutation in a Family with Leber Congenital Amaurosis
Journal of Animal and Veterinary Advances, 2012 Wu Li, Li Pengcheng, Xing Yiqiao
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Inherited Retinal Diseases with High Myopia: A Review. [PDF]
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Protein inhibitor of retinal membrane guanylyl cyclase suppresses cGMP synthesis in photoreceptors. [PDF]
J Biol ChemPeshenko IV, Olshevskaya EV, Dizhoor AM.
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A Novel <i>GUCY2D</i> Frameshift Deletion Identified in a Patient with Leber Congenital Amaurosis 1: A Case Report. [PDF]
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Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar. [PDF]
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A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing. [PDF]
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Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred. [PDF]
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Gene therapy trial lights the way for patients with Leber congenital amaurosis 1. [PDF]
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