Associated Papers
Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
Karacan Küçükali G et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
Edelheit O et al.
Clinical Endocrinology, 2005
The epithelial sodium channel: from molecule to disease.
Schild L
Reviews of Physiology, Biochemistry and Pharmacology, 2004
Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases.
Hummler E et al.
The American Journal of Physiology, 1999
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.
Gründer S et al.
The Embo Journal, 1997
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1.
Oh YS et al.
Experimental Nephrology, 0
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