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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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Pubblicato in:BMJ Case Rep
Autori principali: Veríssimo, Rita, Leite de Sousa, Luís, Carvalho, Tiago J, Fidalgo, Pedro
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2021
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Accesso online: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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