Article
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
Clinical endocrinology - 1 Dec 2010
Hannan Fadil M, Nesbit M A, Christie Paul T, Lissens Willy, Van der Schueren Bart, Bex Marie, Bouillon Roger, Thakker Rajesh V
Abstract excerpt
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...
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