Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium-MedSci.cn

Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium

Wan, XS; Perry, J; Zhang, HC; Jin, F; Ryan, KA; Van Hout, C; Reid, J; Overton, J; Baras, A; Han, Z; Streeten, E; Li, YB; Mitchell, BD; Shuldiner, AR; Fu, M

Shuldiner, AR (corresponding author), Regeneron Pharmaceut Inc, Regeneron Genet Ctr, 785 Saw Mill River Rd, Tarrytown, NY 10591 USA.; Fu, M (corresponding author), Univ Maryland, Sch Med, 670 West Baltimore St,HSFIII 4177, Baltimore, MD 21201 USA.

Abstract

Background Potassium levels regulate multiple physiologic processes. The heritability of serum potassium level is moderate, with published estimates v......

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Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium

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