Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations

Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing renal tubular disease, which is caused by a pathogenic mutation of SLC12A3 encoding thiazide-sensitive Na-Cl cotransporter, which leads to disturbance of sodium and chlorine reabsorption in renal distal convoluted tubules, result...

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Detalles Bibliográficos
Autores principales: Zhang, Jian-hui, Ruan, Dan-dan, Hu, Ya-nan, Ruan, Xing-lin, Zhu, Yao-bin, Yang, Xiao, Wu, Jia-bin, Lin, Xin-fu, Luo, Jie-wei, Tang, Fa-qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8128541/
https://www.ncbi.nlm.nih.gov/pubmed/34046503
http://dx.doi.org/10.1155/2021/9973161

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