Gα(11) mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

Heterozygous germline gain-of-function mutations of G-protein subunit α(11) (Gα(11)), a signaling partner for the calcium-sensing receptor (CaSR), result in autosomal dominant hypocalcemia type 2 (ADH2). ADH2 may cause symptomatic hypocalcemia with low circulating parathyroid hormone (PTH) concentra...

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Bibliografske podrobnosti
izdano v:JCI Insight
Main Authors: Gorvin, Caroline M., Hannan, Fadil M., Howles, Sarah A., Babinsky, Valerie N., Piret, Sian E., Rogers, Angela, Freidin, Andrew J., Stewart, Michelle, Paudyal, Anju, Hough, Tertius A., Nesbit, M. Andrew, Wells, Sara, Vincent, Tonia L., Brown, Stephen D.M., Cox, Roger D., Thakker, Rajesh V.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2017
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5291742/
https://ncbi.nlm.nih.gov/pubmed/28194447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.91103
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