Abstract
Previous analysis has refined the location of the gene for Norrie disease, a severe, X–linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome sub–fragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an evolutionary conserved cDNA, which is expressed in fetal and adult brain and encodes a predicted protein of 133 amino acids. The cDNA detects genomic sequences which span a maximum of 50 kb, and which are partly deleted in several typical Norrie disease patients. An EcoRI polymorphism with a calculated heterozygosity value of 43% was observed. The locus identified is a strong candidate for the Norrie disease gene.
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Chen, ZY., Hendriks, R., Jobling, M. et al. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet 1, 204–208 (1992). https://doi.org/10.1038/ng0692-204
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DOI: https://doi.org/10.1038/ng0692-204
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