Article
Genotype/phenotype observations in African Americans with Bartter syndrome.
The Journal of pediatrics - 1 Jul 2001
Schurman S J, Perlman S A, Sutphen R, Campos A, Garin E H, Cruz D N, Shoemaker L R
Abstract excerpt
BACKGROUND: Two Bartter syndrome phenotypes have been described, and molecular analyses demonstrate mutations in 1 of 3 genes encoding ascending limb of Henle transporters. We report phenotypic observations in 5 African American children with Bartter syndrome in the context of a distinct genotype. METHODS: Mutation analyses were performed in 5 unrelated African American children with Bartter syndrome. These...
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