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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
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
RMID: 0030005436
DOI: 10.1038/376145a0
Appears in Collections:Paediatrics publications

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