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Reducing αENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K + loading
Poulsen, Søren Brandt, Praetorius, Jeppe, Damkier, Helle H., Miller, Lance, Nelson, Raoul D., Hummler, Edith, Christensen, Birgitte Mønster
Published in American journal of physiology. Renal physiology (15.02.2016)
Published in American journal of physiology. Renal physiology (15.02.2016)
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Journal Article
Pseudohypoaldosteronism type 1: clinical features and management in infancy
Amin, N, Alvi, N S, Barth, J H, Field, H P, Finlay, E, Tyerman, K, Frazer, S, Savill, G, Wright, N P, Makaya, T, Mushtaq, T
Published in Endocrinology, diabetes & metabolism case reports (01.08.2013)
Published in Endocrinology, diabetes & metabolism case reports (01.08.2013)
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Journal Article
Reducing [alpha]ENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading
Poulsen, Søren Brandt, Praetorius, Jeppe, Damkier, Helle H, Miller, Lance, Nelson, Raoul D, Hummler, Edith, Christensen, Birgitte Mønster
Published in American journal of physiology. Renal physiology (15.02.2016)
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Published in American journal of physiology. Renal physiology (15.02.2016)
Journal Article
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
Chang, Sue S., Grunder, Stefan, Hanukoglu, Aaron, Rösler, Ariel, Mathew, P.M., Hanukoglu, Israel, Schild, Laurent, Lu, Yin, Shimkets, Richard A., Nelson-Williams, Carol, Rossier, Bernard C., Lifton, Richard P.
Published in Nature genetics (01.03.1996)
Published in Nature genetics (01.03.1996)
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Journal Article
Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene
Fernandes-Rosa, Fabio L., de Castro, Margaret, Latronico, Ana Claudia, Sippell, Wolfgang G., Riepe, Felix G., Antonini, Sonir R.
Published in The journal of clinical endocrinology and metabolism (01.09.2006)
Published in The journal of clinical endocrinology and metabolism (01.09.2006)
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Journal Article
Identification of a Novel Intron and 4 Polymorphisms in the Gene Encoding the γ Subunit of the Epithelial Sodium Channel
XU, XIN, NIU, TIANHUA, CHEN, CHANGZHONG, YANG, JIANHUA, FANG, ZHIAN, XU, XIPING
Published in Human biology (01.10.1999)
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Published in Human biology (01.10.1999)
Journal Article