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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: cowing ja. 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.
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT. Tan MH, et al. PLoS One. 2012;7(3):e32330. doi: 10.1371/journal.pone.0032330. Epub 2012 Mar 6. PLoS One. 2012. PMID: 22412862 Free PMC article.
Spectral tuning of shortwave-sensitive visual pigments in vertebrates.
Hunt DM, Carvalho LS, Cowing JA, Parry JW, Wilkie SE, Davies WL, Bowmaker JK. Hunt DM, et al. Among authors: cowing ja. Photochem Photobiol. 2007 Mar-Apr;83(2):303-10. doi: 10.1562/2006-06-27-IR-952. Photochem Photobiol. 2007. PMID: 17576346 Review.
31 results