Adelaide Research & Scholarship
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https://hdl.handle.net/2440/7723
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| Type: | Journal article |
| Title: | Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2 |
| Author: | Jones, C. Penny, L. Mattina, T. Yu, S. Baker, E. Voullaire, L. Langdon, W. Sutherland, G. Richards, R. Tunnacliffe, A. |
| Citation: | Nature, 1995; 376(6536):145-149 |
| Publisher: | Macmillan Journals |
| Issue Date: | 1995 |
| ISSN: | 0028-0836 1476-4687 |
| Abstract: | The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q-) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements. |
| Keywords: | Chromosomes, Human, Pair 11 Humans Chromosome Fragility Chromosome Deletion Syndrome Ubiquitin-Protein Ligases Proto-Oncogene Proteins Blotting, Southern Restriction Mapping Pedigree Base Sequence Repetitive Sequences, Nucleic Acid Methylation Chromosome Fragile Sites Molecular Sequence Data Female Male Proto-Oncogene Proteins c-cbl Proto-Oncogene Mas |
| DOI: | 10.1038/376145a0 |
| Published version: | http://dx.doi.org/10.1038/376145a0 |
| Appears in Collections: | Aurora harvest Paediatrics publications |
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