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Nat Genet. 1992 Jun;1(3):204-8.

Isolation and characterization of a candidate gene for Norrie disease.

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1
Department of Biochemistry, University of Oxford, UK.

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 subfragment 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 evolutionarily 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.

PMID:
1303236
DOI:
10.1038/ng0692-204
[Indexed for MEDLINE]
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