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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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Bibliografische gegevens
Gepubliceerd in:BMJ Case Rep
Hoofdauteurs: Wulczyn, Kendra, Perez-Reyes, Edward, Nussbaum, Robert L, Park, Meyeon
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Publishing Group 2019
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Online toegang: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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