Article
Genetic heterogeneity in patients with Bartter syndrome type 1.
Molecular medicine reports - 1 Feb 2017
Sun Mingran, Ning Jing, Xu Weihong, Zhang Han, Zhao Kaishu, Li Wenfu, Li Guiying, Li Shibo
Abstract excerpt
Bartter syndrome (BS) type 1 is an autosomal recessive kidney disorder caused by loss‑of‑function mutations in the solute carrier family 12 member 1 (SLC12A1) gene. To date, 72 BS type 1 patients harboring SLC12A1 mutations have been documented. Of these 144 alleles studied, 68 different disease‑causing mutations have been detected in 129 alleles, and no mutation was detected in the remaining 15 alleles. The...
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