Article
Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.
Journal of applied genetics - 1 Jan 2006
Smigiel Robert, Lebioda Arleta, Patkowski Dariusz, Czernik Jerzy, Dobosz Tadeusz, Pesz Karolina, Kaczmarz Monika, Sasiadek Maria M
Abstract excerpt
Hirschsprung disease (HSCR) is a congenital, heterogeneous disorder, characterized by the absence of intestinal ganglion cells. Recent advances show that the RET gene is a major locus involved in the pathogenesis of HSCR. The aim of this study was to analyse if the HSCR phenotype in the Polish population is associated with the presence of polymorphisms in exons 2, 3, 7, 11, 13, 14 and 15 of the RET gene....
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