Article
Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects.
Internal medicine journal - 1 May 2009
Borghini S, Duca M Di, Pini Prato A, Lerone M, Martucciello G, Jasonni V, Ravazzolo R, Ceccherini I
Abstract excerpt
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...
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