Mutation analysis of NR2E3 and NRL genes
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Alan F. Wright; Adam C. Reddick; Sharon B. Schwartz; Julie S. Ferguson; Tomas S.
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Article
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2004
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John Wiley and Sons
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English
β 429 KB
Ten new and seventeen previously reported Enhanced S Cone Syndrome (ESCS) subjects were used to search for genetic heterogeneity. All subjects were diagnosed with ESCS on the basis of clinical, psychophysical and/or electroretinography testing using published criteria. Mutation analysis was performe