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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...
Gardado en:
| Publicado en: | BMJ Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Publishing Group
2021
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| Assuntos: | |
| 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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