Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

• Principais autores: Antiñolo Guillermo (Autor), Fernández Raquel M (Autor), Núñez-Torres Rocio (Autor), Sánchez-Mejías Avencia (Autor), Borrego Salud (Autor)
• Formato: Livro
• Publicado em: BMC, 2010-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Hirschsprung disease is characterized by the absence of intramural ganglion cells in the enteric plexuses, due to a fail during enteric nervous system formation. Hirschsprung has a complex genetic aetiology and mutations in several g...