Articles with "slc12a1 gene" as a keyword



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Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene

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Published in 2019 at "Indian Journal of Nephrology"

DOI: 10.4103/ijn.ijn_175_18

Abstract: Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia,… read more here.

Keywords: slc12a1 gene; antenatal bartter; bartter syndrome; syndrome ... See more keywords