Elucidating the Underlying Molecular Pathogenesis of<i>NR3C2</i>Mutants Causing Autosomal Dominant Pseudohypoaldosteronism Type 1

Abstract

Our data on six mutations extend the spectrum of PHA1-causing NR3C2 gene mutations. Studying naturally occurring mutants helps to clarify their pathogenicity and to identify crucial residues for MR structure and function.