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Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review

Gitelman syndrome is an autosomal recessive disease mostly associated with loss‐of‐function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at...

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Publicado en:Clin Case Rep
Autores principales: Xia, Ming‐Feng, Bian, Hua, Liu, Hong, Wu, Hui‐Juan, Zhang, Zhi‐Gang, Lu, Zhi‐Qiang, Gao, Xin
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5412754/
https://ncbi.nlm.nih.gov/pubmed/28469853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.874
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