| | |  | | | | Record from Web of Science® | | | | | | |
| TRIPLET REPEAT MUTATIONS IN HUMAN-DISEASE |
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| Author(s): CASKEY CT, PIZZUTI A, FU YH, FENWICK RG, NELSON DL |
| Source: SCIENCE Volume: 256 Issue: 5058 Pages: 784-789 Published: MAY 8 1992 |
| Times Cited: 359 References: 56 |
| Abstract: Triplet repeats are the sites of mutation in three human heritable disorders, spinal and bulbar muscular atrophy (SBMA), fragile X syndrome, and myotonic dystrophy (DM). These repeats are GC-rich and highly polymorphic in the normal population. Fragile X syndrome and DM are examples of diseases in which premutation alleles cause little or no disease in the individual, but give rise to significantly amplified repeats in affected progeny. This newly identified mechanism of mutation has, so far, been identified in two of the most common heritable disorders, fragile X syndrome and DM, and one rare disease, SBMA. |
| Document Type: Article |
| Language: English |
| Reprint Address: CASKEY, CT (reprint author), BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA |
Addresses:
1. BAYLOR COLL MED, HOWARD HUGHES MED INST, HOUSTON, TX 77030 USA
2. BAYLOR COLL MED, CTR HUMAN GENOME, HOUSTON, TX 77030 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: HT235 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |