Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal disorder characterized by photoreceptor cell death and genetic heterogeneity. Mutations in many genes have been implicated in the pathophysiology of RCD, but several others remain to be identified. Herei...

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Autori principali: El Shamieh, Said, Neuillé, Marion, Terray, Angélique, Orhan, Elise, Condroyer, Christel, Démontant, Vanessa, Michiels, Christelle, Antonio, Aline, Boyard, Fiona, Lancelot, Marie-Elise, Letexier, Mélanie, Saraiva, Jean-Paul, Léveillard, Thierry, Mohand-Saïd, Saddek, Goureau, Olivier, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2014
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Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3980423/
https://ncbi.nlm.nih.gov/pubmed/24680887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.03.005
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