Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
Copyright policy )Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
AbstractSPRY2 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.
Intestinal Diseases, Gene Frequency, DNA Mutational Analysis, Intracellular Signaling Peptides and Proteins, Genetic Variation, Humans, Membrane Proteins, Receptor Protein-Tyrosine Kinases, Signal Transduction
Intestinal Diseases, Gene Frequency, DNA Mutational Analysis, Intracellular Signaling Peptides and Proteins, Genetic Variation, Humans, Membrane Proteins, Receptor Protein-Tyrosine Kinases, Signal Transduction
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