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| MUTATIONS IN THE HUMAN RETINAL DEGENERATION SLOW GENE IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA |
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| Author(s): KAJIWARA K, HAHN LB, MUKAI S, TRAVIS GH, BERSON EL, DRYJA TP |
| Source: NATURE Volume: 354 Issue: 6353 Pages: 480-483 Published: DEC 12 1991 |
| Times Cited: 310 References: 19 |
| Abstract: THE murine retinal degeneration slow (rds) gene is a semidominant mutation with a phenotype having rod and cone photoreceptors that develop abnormally and then slowly degenerate 1-3. The phenotype is a possible model for retinitis pigmentosa, one of the scores of hereditary human retinal degenerations, which is also characterized by photoreceptor degeneration. We report here three mutations of the human homologue of the rds gene (RDS) that cosegregate with autosomal dominant retinitis pigmentosa in separate families. Our results indicate that some cases of autosomal dominant retinitis pigmentosa are due to mutations at the RDS locus. |
| Document Type: Article |
| Language: English |
| Reprint Address: DRYJA, TP (reprint author), HARVARD UNIV, MASSACHUSETTS EYE & EAR INFIRM, SCH MED, HOWE LAB OPHTHALMOL, 243 CHARLES ST, BOSTON, MA 02114 USA |
Addresses:
1. HARVARD UNIV, MASSACHUSETTS EYE & EAR INFIRM, SCH MED, HOWE LAB OPHTHALMOL, 243 CHARLES ST, BOSTON, MA 02114 USA
2. HARVARD UNIV, MASSACHUSETTS EYE & EAR INFIRM, SCH MED, BERMAN GUND LAB STUDY RETINAL DEGENERAT, BOSTON, MA 02114 USA
3. UNIV TEXAS, SW MED CTR, DEPT PSYCHIAT, DALLAS, TX 75237 USA |
| Publisher: MACMILLAN MAGAZINES LTD, 4 LITTLE ESSEX STREET, LONDON, ENGLAND WC2R 3LF |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: GV078 |
| ISSN: 0028-0836 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |