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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7723
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dc.contributor.authorJones, C.-
dc.contributor.authorPenny, L.-
dc.contributor.authorMattina, T.-
dc.contributor.authorYu, S.-
dc.contributor.authorBaker, E.-
dc.contributor.authorVoullaire, L.-
dc.contributor.authorLangdon, W.-
dc.contributor.authorSutherland, G.-
dc.contributor.authorRichards, R.-
dc.contributor.authorTunnacliffe, A.-
dc.date.issued1995-
dc.identifier.citationNature, 1995; 376(6536):145-149-
dc.identifier.issn0028-0836-
dc.identifier.issn1476-4687-
dc.identifier.urihttp://hdl.handle.net/2440/7723-
dc.description.abstractThe 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.-
dc.language.isoen-
dc.publisherMacmillan Journals-
dc.source.urihttp://dx.doi.org/10.1038/376145a0-
dc.subjectChromosomes, Human, Pair 11-
dc.subjectHumans-
dc.subjectChromosome Fragility-
dc.subjectChromosome Deletion-
dc.subjectSyndrome-
dc.subjectUbiquitin-Protein Ligases-
dc.subjectProto-Oncogene Proteins-
dc.subjectBlotting, Southern-
dc.subjectRestriction Mapping-
dc.subjectPedigree-
dc.subjectBase Sequence-
dc.subjectRepetitive Sequences, Nucleic Acid-
dc.subjectMethylation-
dc.subjectChromosome Fragile Sites-
dc.subjectMolecular Sequence Data-
dc.subjectFemale-
dc.subjectMale-
dc.subjectProto-Oncogene Proteins c-cbl-
dc.subjectProto-Oncogene Mas-
dc.titleAssociation of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2-
dc.typeJournal article-
dc.identifier.doi10.1038/376145a0-
pubs.publication-statusPublished-
Appears in Collections:Aurora harvest
Paediatrics publications

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