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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Smith, Amanda, Bulman, Dennis E, Goldsmith, Claire, Bareke, Eric, Majewski, Jacek, Boycott, Kym M, Nikkel, Sarah M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2015
Konular:
Short Report
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller