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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Vydáno v:Eur J Hum Genet
Hlavní autoři: Smith, Amanda, Bulman, Dennis E, Goldsmith, Claire, Bareke, Eric, Majewski, Jacek, Boycott, Kym M, Nikkel, Sarah M
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
Témata:
Short Report
On-line přístup: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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