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| DIGENIC RETINITIS-PIGMENTOSA DUE TO MUTATIONS AT THE UNLINKED PERIPHERIN/RDS AND ROM1 LOCI |
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| Author(s): KAJIWARA K, BERSON EL, DRYJA TP |
| Source: SCIENCE Volume: 264 Issue: 5165 Pages: 1604-1608 Published: JUN 10 1994 |
| Times Cited: 329 References: 40 |
| Abstract: In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). These findings indicate that the allelic and nonallelic heterogeneity known to be a feature of monogenic RP is complicated further by interactions between unlinked mutations causing digenic RP. Recognition of the inheritance pattern exemplified by these three families might facilitate the identification of other examples of digenic inheritance in human disease. |
| Document Type: Article |
| Language: English |
Addresses:
1. HARVARD UNIV, MASSACHUSETTS EYE & EAR INFIRM, SCH MED, HOWE LAB OPHTHALMOL, BOSTON, MA 02114 USA
2. HARVARD UNIV, MASSACHUSETTS EYE & EAR INFIRM, SCH MED, BERMAN GUND LAB STUDY RETINAL DEGENERAT, BOSTON, MA 02114 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: NQ285 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |