Article
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Journal of the American Society of Nephrology : JASN - 1 Feb 2023
Viering Daan H H M, Hureaux Marguerite, Neveling Kornelia, Latta Femke, Kwint Michael, Blanchard Anne, Konrad Martin, Bindels René J M, Schlingmann Karl-Peter, Vargas-Poussou Rosa, de Baaij Jeroen H F
Abstract excerpt
BACKGROUND: Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. It is caused by homozygous recessive or compound heterozygous pathogenic variants in SLC12A3 , which encodes the Na + -Cl - cotransporter (NCC). In up to 10% of patients with Gitelman syndrome, current genetic techniques detect only one specific pathogenic variant. This study aimed to identify a...
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