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Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: robson ag. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.
207 results