Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population

The calcium-sensing receptor (CaSR) regulates serum calcium concentrations. CASR loss- or gain-of-function mutations cause familial hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-dominant hypocalcemia type 1 (ADH1), respectively, but the population prevalence of FHH1 or ADH1 is unknown. Rare...

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Detalles Bibliográficos
Autores principales: Dershem, Ridge, Gorvin, Caroline M., Metpally, Raghu P.R., Krishnamurthy, Sarathbabu, Smelser, Diane T., Hannan, Fadil M., Carey, David J., Thakker, Rajesh V., Breitwieser, Gerda E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273533/
https://www.ncbi.nlm.nih.gov/pubmed/32386559
http://dx.doi.org/10.1016/j.ajhg.2020.04.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273533/
https://www.ncbi.nlm.nih.gov/pubmed/32386559
http://dx.doi.org/10.1016/j.ajhg.2020.04.006

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