Article
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Human mutation - 1 Nov 2004
Wright Alan F, Reddick Adam C, Schwartz Sharon B, Ferguson Julie S, Aleman Tomas S, Kellner Ulrich, Jurklies Bernhard, Schuster Andreas, Zrenner Eberhart, Wissinger Bernd, Lennon Alan, Shu Xinhua, Cideciyan Artur V, Stone Edwin M, Jacobson Samuel G, Swaroop Anand
Abstract excerpt
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 performed on the NR2E3 nuclear receptor gene by single strand conformation analysis and direct sequencing, which revealed...
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