Journal
INTERNAL MEDICINE JOURNAL
Volume 39, Issue 5, Pages 335-337Publisher
WILEY
DOI: 10.1111/j.1445-5994.2009.01907.x
Keywords
SPRY2; intestinal neuronal dysplasia; mutation screening
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Funding
- Italian Telethon [GGP04257]
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SPRY2 is an inducible inhibitor of signalling mediated by tyrosine kinases receptors, whose targeting causes intestinal hyperganglionosis in mice. In this light, we have undertaken a mutational analysis of the SPRY2 gene in patients affected with intestinal neuronal dysplasia (IND), without detecting nucleotide changes in any of the 26 DNA samples analysed, with the exception of two already known polymorphic variants. A role of the SPRY2 gene in IND pathogenesis can be thus excluded.
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