Title : A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.

Pub. Date : 2009 Jan

PMID : 19344080






1 Functional Relationships(s)
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1 PHA1 is caused by mutations in genes encoding either subunits of the amiloride-sensitive epithelial sodium channel (ENaC) or mineralocorticoid receptor (MR) inherited in an autosomal recessive or dominant form, respectively. Amiloride sodium channel epithelial 1 subunit gamma Homo sapiens