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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

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.[1]

References

  1. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E., Voullaire, L., Langdon, W.Y., Sutherland, G.R., Richards, R.I., Tunnacliffe, A. Nature (1995) [Pubmed]
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