Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review
Author:
Affiliation:
1. Department of Paediatrics; Aarhus University Hospital; Aarhus Denmark
2. Department of Clinical Biochemistry; Aarhus University Hospital; Aarhus Denmark
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/apa.12743/fullpdf
Reference30 articles.
1. The role of the calcium-sensing receptor in human disease;Ward;Clin Biochem,2012
2. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation;Pollak;Nat Genet,1994
3. Diseases associated with the extracellular calcium-sensing receptor;Thakker;Cell Calcium,2004
4. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor;Pearce;N Engl J Med,1996
5. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid;Brown;Nature,1993
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