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Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

✍ Scribed by Haider, Neena B.; Jacobson, Samuel G.; Cideciyan, Artur V.; Swiderski, Ruth; Streb, Luan M.; Searby, Charles; Beck, Gretel; Hockey, Robin; Hanna, David B.; Gorman, Susan


Book ID
109827646
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
974 KB
Volume
24
Category
Article
ISSN
1061-4036

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Mutation analysis of NR2E3 and NRL genes
✍ Alan F. Wright; Adam C. Reddick; Sharon B. Schwartz; Julie S. Ferguson; Tomas S. πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 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