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- W2051652610 abstract "A patient from a large kindred with adrenoleukodystrophy showed profound disturbance of color ordering, color matching, increment thresholds, and luminosity. Except for color matching, his performance was similar to blue-cone monochromacy, an X chromosome-linked recessive retinal dystrophy in which color vision is dichromatic, mediated by the visual pigments of rods and short-wave-sensitive cones. Color matching, however, indicated that an abnormal rudimentary visual pigment was also present. This may reflect the presence of a recombinant visual pigment protein or altered regulation of residual pigment genes, due to DNA changes--deletion of the long-wave pigment gene and reorganized sequences 5' to the pigment gene cluster--that segregate with the metabolic defect in this kindred." @default.
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- W2051652610 date "1993-10-15" @default.
- W2051652610 modified "2023-10-14" @default.
- W2051652610 title "Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision." @default.
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- W2051652610 doi "https://doi.org/10.1073/pnas.90.20.9494" @default.
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