Article
A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.
Human mutation - 1 Feb 2005
Griseri Paola, Bachetti Tiziana, Puppo Francesca, Lantieri Francesca, Ravazzolo Roberto, Devoto Marcella, Ceccherini Isabella
Abstract excerpt
Hirschsprung disease (HSCR) is a complex genetic defect of intestinal innervation mainly ascribed to loss of function mutations of the RET gene. Although RETcoding mutations account for only 15% of HSCR sporadic cases, several linkage and association studies still indicate RET as a major HSCR gene, suggesting the existence of noncoding RET variants or common polymorphisms which can act in HSCR pathogenesis. We...
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