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Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene
Meconium ileus is most often associated with mutations in the CFTR gene; however recently, mutations in GUCY2C in the Bedouin population have also been shown to result in this phenotype. This gene codes for an intestinal transmembrane receptor that generates cyclic GMP, which activates cystic fibros...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4463511/ https://ncbi.nlm.nih.gov/pubmed/25370039 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.236 |
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