Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

doi:10.1007/s00439-010-0930-4

Article

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

Human genetics - 1 Apr 2011

Muhammad Emad, Leventhal Neta, Parvari Galit, Hanukoglu Aaron, Hanukoglu Israel, Chalifa-Caspi Vered, Feinstein Yael, Weinbrand Jenny, Jacoby Harel, Manor Esther, Nagar Tal, Beck John C, Sheffield Val C, Hershkovitz Eli, Parvari Ruti

Abstract excerpt

Genetic disorders of excessive salt loss from sweat glands have been observed in pseudohypoaldosteronism type I (PHA) and cystic fibrosis that result from mutations in genes encoding epithelial Na+ channel (ENaC) subunits and the transmembrane conductance regulator (CFTR), respectively. We identi...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

Abstract excerpt

Topics

Related research