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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Bibliografski detalji
Glavni autori: Luzón-Toro, Berta, Fernández, Raquel M., Torroglosa, Ana, de Agustín, Juan Carlos, Méndez-Vidal, Cristina, Segura, Dolores Isabel, Antiñolo, Guillermo, Borrego, Salud
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2013
Teme:
Research Article
Online pristup: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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