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Eye Disease Gene
Tracy Hampton, PhD
JAMA. 2008;300(13):1508.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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The identification in dogs of a gene involved with the development of cone-rod dystrophies might have clinical value for humans with eye diseases similarly caused by progressive loss of photoreceptor cells (Wiik AC et al. Genome Res. 2008;18[9]:1415-1421).
Through a genome-wide scan performed in dachshunds, a team led by investigators at the Norwegian School of Veterinary Science in Oslo, Norway, and the Broad Institute of Harvard University and the Massachusetts Institute of Technology in Cambridge, Mass, isolated a genetic region on canine chromosome 5 that is associated with early- onset cone-rod dystrophies. Additional studies identified a deletion in the nephronophthisis 4 (NPHP4) gene.
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Scientists are testing special sunglasses to aid the vision of a dachshund with day blindness that is caused by cone-rod dystrophy. (Photo credit: Frode Lingaas/Norwegian School of Veterinary Science)
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The investigators noted that mutations in NPHP4 in humans have been associated . . . [Full Text of this Article]
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