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| ISOLATION AND CHARACTERIZATION OF A CANDIDATE GENE FOR NORRIE DISEASE |
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| Author(s): CHEN ZY, HENDRIKS RW, JOBLING MA, POWELL JF, BREAKEFIELD XO, SIMS KB, CRAIG IW |
| Source: NATURE GENETICS Volume: 1 Issue: 3 Pages: 204-208 Published: JUN 1992 |
| Times Cited: 133 References: 34 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV OXFORD, DEPT BIOCHEM, GENET LAB, S PARKS RD, OXFORD OX1 3QU, ENGLAND
2. INST PSYCHIAT, DEPT NEUROSCI, LONDON SE5 8AF, ENGLAND
3. MASSACHUSETTS GEN HOSP, CTR NEUROSCI, MOLEC NEUROGENET LAB, BOSTON, MA 02114 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JC982 |
| ISSN: 1061-4036 |
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