Genetic heterogeneity in patients with Bartter syndrome type 1

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-cau...

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Bibliographic Details
Published in:Mol Med Rep
Main Authors: Sun, Mingran, Ning, Jing, Xu, Weihong, Zhang, Han, Zhao, Kaishu, Li, Wenfu, Li, Guiying, Li, Shibo
Format: Artigo
Language:Inglês
Published: D.A. Spandidos 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5364841/
https://ncbi.nlm.nih.gov/pubmed/28000888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.6063
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