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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291742/
https://www.ncbi.nlm.nih.gov/pubmed/28194447
http://dx.doi.org/10.1172/jci.insight.91103