A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia Vrije Universiteit Brussel
Background: Inactivating mutations of the calcium-sensing receptor (CaSR), a G-protein-coupled receptor with extracellular (ECD), transmembrane (TMD) and intracellular (ICD) domains, cause familial hypocalciuric hypercalcaemia, neonatal severe primary hyperparathyroidism and occasionally primary hyperparathyroidism in adults.
Objective: To investigate a patient with typical symptomatic primary hyperparathyroidism for CaSR ...
Objective: To investigate a patient with typical symptomatic primary hyperparathyroidism for CaSR ...