Article
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic.
Vision research - 15 Sept 2010
Carroll Joseph, Rossi Ethan A, Porter Jason, Neitz Jay, Roorda Austin, Williams David R, Neitz Maureen
Abstract excerpt
Blue cone monochromacy (BCM) is an X-linked condition in which long- (L) and middle- (M) wavelength-sensitive cone function is absent. Due to the X-linked nature of the condition, female carriers are spared from a full manifestation of the associated defects but can show visual symptoms, including abnormal cone electroretinograms. Here we imaged the cone mosaic in four females carrying an L/M array with deletion...
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