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Novel SLC12A3 mutation in Gitelman syndrome

Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1–10/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only di...

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Detalles Bibliográficos
Publicado en:BMJ Case Rep
Main Authors: Veríssimo, Rita, Leite de Sousa, Luís, Carvalho, Tiago J, Fidalgo, Pedro
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2021
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7813350/
https://ncbi.nlm.nih.gov/pubmed/33462018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-238097
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