MON-539 Mice Harboring a Germline Heterozygous AP2S1 Mutation, Arg15Leu, Are a Model for Familial Hypocalciuric Hypercalcemia Type 3 (FHH3)

Familial hypocalciuric hypercalcemia (FHH) is a disorder of calcium homeostasis comprising three reported genetic variants: FHH types 1 and 2 are due to germline loss-of-function mutations of the calcium-sensing receptor (CaSR) and G-protein subunit α-11 (Gα(11)), respectively, whereas, FHH type 3 (...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: Hannan, Fadil, Stokes, Victoria, Gorvin, Caroline, Hough, Tertius, Codner, Gemma, Stewart, Michelle, Wells, Sara, Teboul, Lydia, Thakker, Rajesh
Formato: Artigo
Idioma:Inglês
Publicado: Endocrine Society 2019
Assuntos:
Bone and Mineral Metabolism
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6550860/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-539
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