A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.
Ward
B K
BK
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia.
Stuckey
B G
BG
Gutteridge
D H
DH
Laing
N G
NG
Pullan
P T
PT
Ratajczak
T
T
D001120:Arginine / Q000235:genetics; D002118:Calcium / Q000097:blood* / Q000172:deficiency / Q000652:urine*; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000235:genetics* / Q000652:urine; D007930:Leucine / Q000235:genetics; D008297:Male; D010281:Parathyroid Hormone / Q000097:blood / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics*
D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D001120:Arginine; D007930:Leucine; D002118:Calcium