Please use this identifier to cite or link to this item: 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
Appears in Collections:Aurora harvest
Paediatrics publications

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