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

• Principais autores: Castaño Luis (Autor), Carlos de Agustín Juan (Autor), Marbá Martina (Autor), Enguix-Riego Maria del Valle (Autor), Acosta Manuel (Autor), Fernández Raquel M (Autor), Núñez-Torres Rocio (Autor), Antiñolo Guillermo (Autor), Borrego Salud (Autor)
• Formato: Livro
• Publicado em: BMC, 2011-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...