Article
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.
BMC medical genetics - 13 Oct 2011
Núñez-Torres Rocio, Fernández Raquel M, Acosta Manuel Jesus, Enguix-Riego Maria Del Valle, Marbá Martina, Carlos de Agustín Juan, Castaño Luis, Antiñolo Guillermo, Borrego Salud
Abstract excerpt
BACKGROUND: RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of both RET rare variants (RVs) and common variants (CVs) in the context of the disease. METHODS:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.