GNA11 variants identified in patients with hypercalcemia or hypocalcemia
Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss- and gain-of-function mutations, respectively, of the GNA11 gene that encodes the G protein subunit Gα11, a signaling partner of the calcium-sensing receptor (CaSR). To date, four pro...
Main Authors: | , , , , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
Wiley
2023
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