Splice-variant-specific effects of primary aldosteronism point mutations on human CaV3.2 calcium channels.
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DOI: 10.1016/j.ceca.2019.102104
Abstract: CaV3.2 calcium channels play important roles in both neural excitability and aldosterone secretion. Recent clinical studies found four germline mutations (S196 L, M1549I, V1951E and P2083 L) in CaV3.2 channels. All four mutations caused primary aldosteronism (PA),… read more here.
Keywords: splice; calcium channels; cav3 channels; cav3 calcium ... See more keywords