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| 3 AUTOSOMAL-DOMINANT CORNEAL DYSTROPHIES MAP TO CHROMOSOME-5Q |
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| Author(s): STONE EM, MATHERS WD, ROSENWASSER GOD, HOLLAND EJ, FOLBERG R, KRACHMER JH, NICHOLS BE, GOREVIC PD, TAYLOR CM, STREB LM, FISHBAUGH JA, DALEY TE, SUCHESKI BM, SHEFFIELD VC |
| Source: NATURE GENETICS Volume: 6 Issue: 1 Pages: 47-51 Published: JAN 1994 |
| Times Cited: 96 References: 32 |
| Abstract: The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease-causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid-associated genes map to chromosome 5. |
| Document Type: Article |
| Language: English |
| Reprint Address: STONE, EM (reprint author), UNIV IOWA, COLL MED, DEPT OPHTHALMOL, IOWA CITY, IA 52242 USA |
Addresses:
1. UNIV IOWA, COLL MED, DEPT PATHOL, IOWA CITY, IA 52242 USA
2. UNIV IOWA, COLL MED, DEPT PEDIAT, IOWA CITY, IA 52242 USA
3. PENN STATE UNIV, MILTON S HERSHEY MED CTR, COLL MED, DEPT OPHTHALMOL, HERSHEY, PA 17033 USA
4. UNIV MINNESOTA, COLL MED, DEPT OPHTHALMOL, MINNEAPOLIS, MN 55455 USA
5. SUNY STONY BROOK, DIV RHEUMATOL & CLIN IMMUNOL, STONY BROOK, NY 11794 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: MQ177 |
| ISSN: 1061-4036 |
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