Global ETD Search

The Search for Regulatory Mutations in Gitelman Syndrome

Aparicio, Renan Eduardo

… CLDN16, CLDN19) have been linked to recessive salt wasting disorders. Gitelman syndrome (GS) is a recessive Mendelian kidney disorder caused by deleterious mutations in SLC12A3 and has an incidence of approximately 1 in 40,0002. Clinical hallmarks of GS include hypotension, hypokalemia, …

rockefeller Repository record for The Search for Regulatory Mutations in Gitelman Syndrome (opens in a new tab)