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...

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Bibliographic Details
Main Authors: Howles, S, Gorvin, C, Cranston, T, Rogers, A, Gluck, A, Boon, H, Gibson, K, Rahman, M, Root, A, Nesbit, M, Hannan, F, Thakker, R
Format: Journal article
Language:English
Published: Wiley 2023