Article
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families.
Scandinavian journal of clinical and laboratory investigation - 1 May 2000
Schwarz P, Larsen N E, Lønborg Friis I M, Lillquist K, Brown E M, Gammeltoft S
Abstract excerpt
We screened three unrelated Danish families with familial hypocalciuric hypercalcemia (FHH) for mutations in the Ca2+-sensing receptor (CASR) gene by polymerase chain reaction amplification and DNA sequencing of exons 2-7, which include the entire coding region of the gene. In one family the affected individuals have a T-->C mutation that changes the normal arginine at codon 220 to a tryptophan. In the other two...
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