Global ETD Search

The Search for Regulatory Mutations in Gitelman Syndrome

Aparicio, Renan Eduardo

… mutant alleles. To date approximately 10 genes (SLC12A3, SLC12A1, KCNJ1, CLCNKB, BSND, MAGED2, KCNJ10, CLDN10, 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 …

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