Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

PURPOSE: To identify the prevalence of rhodopsin (RHO) mutations in French patients with autosomal dominant rod-cone dystrophies (adRP). METHODS: Detailed phenotypic characterization was performed including precise family history, best corrected visual acuity using the ETDRS chart, slit lamp examina...

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Hlavní autoři: Audo, Isabelle, Manes, Gaël, Mohand-Saïd, Saddek, Friedrich, Anne, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Poch, Olivier, Zanlonghi, Xavier, Hamel, Christian P., Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Médium: Artigo
Jazyk:Inglês
Vydáno: Association for Research in Vision and Ophthalmology 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3102265/
https://ncbi.nlm.nih.gov/pubmed/20164459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-4766
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