Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome

Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are still unclear. To investigate genotype-phenotype correlation in GS an...

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Detalles Bibliográficos
Autores principales: Lee, Jae Wook, Lee, Jeonghwan, Heo, Nam Ju, Cheong, Hae Il, Han, Jin Suk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712579/
https://www.ncbi.nlm.nih.gov/pubmed/26770037
http://dx.doi.org/10.3346/jkms.2016.31.1.47

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712579/
https://www.ncbi.nlm.nih.gov/pubmed/26770037
http://dx.doi.org/10.3346/jkms.2016.31.1.47

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