Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.
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DOI: 10.1111/cen.14870
Abstract: OBJECTIVE Gitelman syndrome (GS) is an autosomal recessive tubulopathy resulting from inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). To date, more than 500 mutations have been identified in the… read more here.
Keywords: slc12a3 gene; novel slc12a3; two pedigrees; gitelman syndrome ... See more keywords