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Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene

โœ Scribed by Byron L. Lam; Jeffrey L. Goldberg; Kristen L. Hartley; Edwin M. Stone; Mu Liu


Book ID
116201787
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
942 KB
Volume
144
Category
Article
ISSN
0002-9394

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Mutation analysis of NR2E3 and NRL genes
โœ Alan F. Wright; Adam C. Reddick; Sharon B. Schwartz; Julie S. Ferguson; Tomas S. ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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