Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is caused by SPINT2 mutations. While we recently described four cases of the non-syndromic form of CSD that were caused...

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Bibliografiska uppgifter
I publikationen:Hum Mol Genet
Huvudupphovsmän: Janecke, Andreas R., Heinz-Erian, Peter, Yin, Jianyi, Petersen, Britt-Sabina, Franke, Andre, Lechner, Silvia, Fuchs, Irene, Melancon, Serge, Uhlig, Holm H., Travis, Simon, Marinier, Evelyne, Perisic, Vojislav, Ristic, Nina, Gerner, Patrick, Booth, Ian W., Wedenoja, Satu, Baumgartner, Nadja, Vodopiutz, Julia, Frechette-Duval, Marie-Christine, De Lafollie, Jan, Persad, Rabindranath, Warner, Neil, Tse, C. Ming, Sud, Karan, Zachos, Nicholas C., Sarker, Rafiquel, Zhu, Xinjun, Muise, Aleixo M., Zimmer, Klaus-Peter, Witt, Heiko, Zoller, Heinz, Donowitz, Mark, Müller, Thomas
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2015
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Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4634371/
https://ncbi.nlm.nih.gov/pubmed/26358773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv367
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