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

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 evaluati...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3210088/ https://www.ncbi.nlm.nih.gov/pubmed/21995290 http://dx.doi.org/10.1186/1471-2350-12-138

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