A novel mutation (L174R) in the Ca2+ - Sensing receptor gene associated with familial hypocalciuric hypercalcemia

Human Mutation

Volumn 10, Issue 3, 1997, Pages 233-235

  Ward, Bryan K ^a   Stuckey, Bronwyn G A ^a   Gutteridge, Donald H ^a   Laing, Nigel G ^a   Pullan, Peter T ^a   Ratajczak, Thomas ^a  

^a SIR CHARLES GAIRDNER HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; DNA; PARATHYROID HORMONE; RECEPTOR;

ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; GENE; GENE MUTATION; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ARGININE; CALCIUM; FEMALE; HUMANS; HYPERCALCEMIA; LEUCINE; MALE; PARATHYROID HORMONE; PEDIGREE; POINT MUTATION; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE;

EID: 0030796382     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<233::AID-HUMU9>3.0.CO;2-J     Document Type: Article

References (5)

1. Brown RC, Aston JP, Weeks I, Woodhead JS (1987) Circulating intact parathyroid hormone measured by a two-site immunochemiluminometric assay. J Clin Endocrinol Metab 65:407-414.
2. 2+-sensing. Endocrinologist 4:419-426.
3. Chou YW, Brown EM, Levi T, Crowe G, Atkinson AB, Arnqvist HJ, Toss G, Fuleihan GE, Seidman JG, Seidman CE (1992) The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nature Genet 1:295-300.
4. 2+-sensing receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 56:1075-1079.
5. Firek AF, Kao PC, Heath H III (1991) Plasma intact parathyroid hormone (PTH) and PTH-related peptide in familial benign hypercalcemia: greater responsiveness to endogenous PTH than in primary hyperparathyroidism. J Clin Endocrinol Metab 72:541-546.