Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish 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 colon segment and functional intestinal obstruction. The RET proto-on...

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Autors principals: Luzón-Toro, Berta, Fernández, Raquel M., Torroglosa, Ana, de Agustín, Juan Carlos, Méndez-Vidal, Cristina, Segura, Dolores Isabel, Antiñolo, Guillermo, Borrego, Salud
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3553056/
https://ncbi.nlm.nih.gov/pubmed/23372769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0054800
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