Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C

Meconium ileus, intestinal obstruction in the newborn, is caused in most cases by CFTR mutations modulated by yet-unidentified modifier genes. We now show that in two unrelated consanguineous Bedouin kindreds, an autosomal-recessive phenotype of meconium ileus that is not associated with cystic fibr...

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Bibliographische Detailangaben
Hauptverfasser: Romi, Hila, Cohen, Idan, Landau, Daniella, Alkrinawi, Suliman, Yerushalmi, Baruch, Hershkovitz, Reli, Newman-Heiman, Nitza, Cutting, Garry R., Ofir, Rivka, Sivan, Sara, Birk, Ohad S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2012
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376486/
https://ncbi.nlm.nih.gov/pubmed/22521417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.03.022
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