Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa

Aim: To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype. Methods: The complete rhodopsin gene was screened for mutations by DNA sequencing in index patients. Mutation specific assays were used for se...

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Autori principali: Schuster, A, Weisschuh, N, Jägle, H, Besch, D, Janecke, A R, Zierler, H, Tippmann, S, Zrenner, E, Wissinger, B
Natura: Artigo
Lingua:Inglês
Pubblicazione: Copyright 2005 British Journal of Ophthalmology 2005
Soggetti:
Clinical Science - Scientific Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1772865/
https://ncbi.nlm.nih.gov/pubmed/16170112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2004.063933
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