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Title: Isolation and characterization of a candidate gene for Norrie disease.
Authors: Chen, ZY
Hendriks, RW
Jobling, MA
Powell, JF
Breakefield, XO
Sims, KB
Craig, IW
First Published: Jun-1992
Citation: NAT GENET, 1992, 1 (3), pp. 204-208
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.
DOI Link: 10.1038/ng0692-204
ISSN: 1061-4036
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Genetics

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