Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hum Mutat. 2000 Oct;16(4):281-96. doi: 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A.
Hum Mutat. 2000.
PMID: 11013439
Review.