Comprehensive analysis of <it>RET </it>common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

• Main Authors: Castaño Luis (Author), Carlos de Agustín Juan (Author), Marbá Martina (Author), Enguix-Riego Maria del Valle (Author), Acosta Manuel (Author), Fernández Raquel M (Author), Núñez-Torres Rocio (Author), Antiñolo Guillermo (Author), Borrego Salud (Author)
• Format: Book
• Published: BMC, 2011-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p><it>RET </it>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 presen...