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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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| Publicado no: | Front Endocrinol (Lausanne) |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5930847/ https://ncbi.nlm.nih.gov/pubmed/29743878 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2018.00200 |
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