Advanced search
Publication Cover
Scandinavian Journal of Clinical and Laboratory Investigation Volume 57, 1997 - Issue sup227
Submit an article Journal homepage
23
Views
6
CrossRef citations to date
0
Altmetric
Original Article

Calcium sensing receptor gene: Analysis of polymorphism frequency

L. A. Rubin Departments of Medicine, Clinical Biochemistry and Genetics, University of Toronto, Toronto
,
V. Peltekova Departments of Medicine, Clinical Biochemistry and Genetics, University of Toronto, Toronto
,
N. Janicic Departments of Physiology and Medicine, McGill University, Montreal, Canada
,
C. C. Liew Departments of Medicine, Clinical Biochemistry and Genetics, University of Toronto, Toronto
,
D. Hwang Departments of Medicine, Clinical Biochemistry and Genetics, University of Toronto, Toronto
,
J. Evrovski Departments of Medicine, Clinical Biochemistry and Genetics, University of Toronto, Toronto
,
G. N. Hendy Departments of Physiology and Medicine, McGill University, Montreal, Canada
&
D E.C. Cole Departments of Physiology and Medicine, McGill University, Montreal, Canada
 show all
Pages 122-125 | Published online: 17 Mar 2010

References

  • Ghattopadhyay N, Mithal A, Brown E M. The calcium sensing receptor: a window into the physiology and pathophysiology of mineral ion metabolism. Endocrine Rev 1996; 17: 289–307
  • Janicic N, Soliman E, Pausova Z, Seldin M F, Riviere M, Szpirer J, Szpirer C, Nad Hendy G N. Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3ql3.3–21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16. Mammalian Genome 1995; 6: 798–801
  • Brown E M, Gamba G, Riccardi D, Lombardi D, Butters R, Kifor O, Sun A, Hediger M A, Lytton J, Hebert S C. Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid. Nature 1993; 366: 575–580
  • Riccardi D, Park J, Lee W-S, Gamba G, Brown E M, Hebert S C. Cloning and functional expression of a rat kidney extracellular calcium receptor. Proc Natl Acad Sci (USA) 1995; 92: 3161–3165
  • Stewart A F, Broadus A E. Mineral Metabolism. Endocrinology, Metabolism, ed 2, P Felig, J D Baxter, A E Broadus, L A Frohman. McGraw–Hill, New York 1987; 1317–1453
  • Bai M, Quinn S, Trivedi S, Kifor O, Pearce S HS, Pollak M R, Krapcho K, Hebert H C, Brown E M. Expression and characterization of inactivating and activating mutations in the human Ca2+ o -sensing receptor. J Biol Chem 1996; 271: 19537–19545
  • Janicic N, Pausova Z, Cole D EC, Hendy G N. Insertion of an Alu sequence in the Ca2+ -sensing receptor gene that cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 1995; 56: 880–886
  • Bai M, Janicic N, Quinn S, Cole D EC, Brown E M, Hendy G N. Markedly reduced activity of mutant Ca2+ -sensing receptor from an FHH kindred with an inserted alu element. J Bone Min Res 1996; 11: T477, S419
  • Heath H, III, Odelberg S, Jackson C E, The B T, Hayward N, Larsson C, Buist N RM, Krapcho K J, Hung B C, Capuano I V, Garrett J E, Leppert M F. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrin Metab 1996; 81: 1217–1317
  • Garrett J E, Capuano I V, Hammerland L G, Hung B C, Brown E M, Nemeth E F, Fuller F. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem 1995; 270: 12919–12925

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.