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Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia

The human calcium-sensing receptor (CASR) is the key controller of extracellular Ca(o)(2+) homeostasis, and different mutations in the CASR gene have been linked to different calcium diseases, such as familial hypocalciuric hypercalcemia, severe hyperparathyroidism, autosomal-dominant hypocalcemia (...

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Detalles Bibliográficos
Autores principales:	Rasmussen, Anne Qvist, Jørgensen, Niklas Rye, Schwarz, Peter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930847/ https://www.ncbi.nlm.nih.gov/pubmed/29743878 http://dx.doi.org/10.3389/fendo.2018.00200

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