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| Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome |
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| Author(s): Dixon J, Edwards SJ, Gladwin AJ, Dixon MJ, Loftus SK, Bonner CA, Koprivnikar K, Wasmuth JJ |
| Source: NATURE GENETICS Volume: 12 Issue: 2 Pages: 130-136 Published: FEB 1996 |
| Times Cited: 110 References: 44 |
| Abstract: Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, which has been localized to chromosome 5q32-33.1. In the present study, the isolation of new polymorphic markers has allowed the identification of overlapping recombination events in two affected individuals. Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function. The identification of different mutations in five unrelated families, all of which would result in premature termination of the predicted protein, indicates that the Treacher Collins syndrome gene has been positionally cloned. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV MANCHESTER, SCH BIOL SCI, MANCHESTER M13 9PT, LANCS ENGLAND
2. UNIV MANCHESTER, DEPT DENT MED, MANCHESTER M13 9PT, LANCS ENGLAND
3. UNIV MANCHESTER, DEPT SURG, MANCHESTER M13 9PT, LANCS ENGLAND
4. UNIV CALIF IRVINE, COLL MED, DEPT BIOL CHEM, IRVINE, CA 92717 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: TU079 |
| ISSN: 1061-4036 |
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