PMC Links for OMIM (Select 303700) - PMC

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Items: 3

Select item 28967751.

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

Jessica C. Gardner, Tom R. Webb, Naheed Kanuga, Anthony G. Robson, Graham E. Holder, Andrew Stockman, Caterina Ripamonti, Neil D. Ebenezer, Olufunmilola Ogun, Sophie Devery, Genevieve A. Wright, Eamonn R. Maher, Michael E. Cheetham, Anthony T. Moore, Michel Michaelides, Alison J. Hardcastle

Am J Hum Genet. 2010 Jul 9; 87(1): 26–39. doi: 10.1016/j.ajhg.2010.05.019

PMCID:: PMC2896775

Abstract Article PDF–1.3M

Select item 26762012.

Blue cone monochromacy: Causative mutations and associated phenotypes

Jessica C. Gardner, Michel Michaelides, Graham E. Holder, Naheed Kanuga, Tom R. Webb, John D. Mollon, Anthony T. Moore, Alison J. Hardcastle

Mol Vis. 2009; 15: 876–884. Published online 2009 May 1.

PMCID:: PMC2676201

Abstract Article PDF–15M

Select item 16823013.

Genetic heterogeneity among blue-cone monochromats

Jeremy Nathans, Irene H. Maumenee, Eberhart Zrenner, Bettina Sadowski, Lindsay T. Sharpe, Richard A. Lewis, Egill Hansen, Thomas Rosenberg, Marianne Schwartz, John R. Heckenlively, Elias Traboulsi, Roger Klingaman, N. Torben Bech-Hansen, G. Robert LaRoche, Roberta A. Pagon, William H. Murphey, Richard G. Weleber

Am J Hum Genet. 1993 Nov; 53(5): 987–1000.