Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
作者： C. Jones , L. Penny , T. Mattina , S. Yu , E. Baker
DOI: 10.1038/376145A0
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摘要: The fragile site FRA11B has been localized to the p(CCG)n repeat of CBL2 proto-oncogene. A proportion Jacobsen (11q-) syndrome patients inherited a chromosome carrying expansion, which was truncated close FRA11B. These results have broad implications for role expansion in aetiology genetic disease involving rearrangements.
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