Article
Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions.
Vision research - 23 Nov 2010
Wagner-Schuman Melissa, Neitz Jay, Rha Jungtae, Williams David R, Neitz Maureen, Carroll Joseph
Abstract excerpt
Our understanding of the etiology of red-green color vision defects is evolving. While missense mutations within the long- (L-) and middle-wavelength sensitive (M-) photopigments and gross rearrangements within the L/M-opsin gene array are commonly associated with red-green defects, recent work using adaptive optics retinal imaging has shown that different genotypes can have distinct consequences for the cone...
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