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Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients

Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. The RET proto-onco...

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Detalles Bibliográficos
Autores principales:	Luzón-Toro, Berta, Torroglosa, Ana, Núñez-Torres, Rocío, Enguix-Riego, María Valle, Fernández, Raquel María, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3344894/ https://www.ncbi.nlm.nih.gov/pubmed/22574178 http://dx.doi.org/10.1371/journal.pone.0036524

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