Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2|
|Citation:||Nature, 1995; 376(6536):145-149|
|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|
|Appears in Collections:||Paediatrics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.