CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference24 articles.
1. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
2. Extracellular Calcium Sensing and Extracellular Calcium Signaling
3. Extracellular Calcium-sensing Receptor Is Expressed in Rat Hepatocytes
4. Human Calcium-sensing Receptor Gene
5. Cloning and Characterization of Two Promoters for the Human Calcium-sensing Receptor (CaSR) and Changes of CaSR Expression in Parathyroid Adenomas
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3. Cinacalcet therapy in a child with novel homozygous casr p.glu353lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature;The Turkish Journal of Pediatrics;2023
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