Novel mutation of the calcium sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism.
de Andrade
Simone Caixeta
SC
Kohara
Suely Keiko
SK
D'Souza-Li
Lilia
L
D002118:Calcium / Q000652:urine; D003241:Consanguinity; D005091:Exons; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics* / Q000652:urine; D006961:Hyperparathyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
D044169:Receptors, Calcium-Sensing; D002118:Calcium