A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous disorder with three variants, FHH1 to FHH3. FHH1 is caused by loss‐of‐function mutations of the calcium‐sensing receptor (CaSR), a G‐protein coupled receptor that predominantly signals via G‐protein subunit alpha‐11 (Gα(11)) t...

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Détails bibliographiques
Publié dans:J Bone Miner Res
Auteurs principaux: Gorvin, Caroline M, Cranston, Treena, Hannan, Fadil M, Rust, Nigel, Qureshi, Asjid, Nesbit, M Andrew, Thakker, Rajesh V
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2016
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Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4949650/
https://ncbi.nlm.nih.gov/pubmed/26729423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2778
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