title: A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.
authors.affiliation: Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia.
authors.forename: B K
authors.initials: BK
authors.lastname: Ward
authors.forename: B G
authors.initials: BG
authors.lastname: Stuckey
authors.forename: D H
authors.initials: DH
authors.lastname: Gutteridge
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
authors.forename: P T
authors.initials: PT
authors.lastname: Pullan
authors.forename: T
authors.initials: T
authors.lastname: Ratajczak
mesh_terms: 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*
chemical_list: D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D001120:Arginine; D007930:Leucine; D002118:Calcium