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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Main Authors: Luzón-Toro, Berta, Torroglosa, Ana, Núñez-Torres, Rocío, Enguix-Riego, María Valle, Fernández, Raquel María, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2012
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3344894/
https://ncbi.nlm.nih.gov/pubmed/22574178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0036524
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