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Primary aldosteronism associated with a germline variant in CACNA1H
The CACNA1H gene encodes the pore-forming α1 subunit of the T-type voltage-dependent calcium channel Ca(V)3.2, expressed abundantly in the adrenal cortex. Mutations in CACNA1H are associated with various forms of primary aldosteronism (PA), including familial hyperaldosteronism type 4 (FH4). We desc...
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| Publicat a: | BMJ Case Rep |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6536178/ https://ncbi.nlm.nih.gov/pubmed/31126930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-229031 |
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