Multiplex ligation-dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: no large rearrangements identified in patients with calcium metabolic disorders

Author:

Nissen Peter H.,Christensen Signe E.,Wallace Andrew,Heickendorff Lene,Brixen Kim,Mosekilde Leif

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference20 articles.

1. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia;Pidasheva;Human Mutation,2004

2. A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor’s carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia;Lienhardt;The Journal of Clinical Endocrinology and Metabolism,2000

3. Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism;Janicic;American Journal of Human Genetics,1995

4. Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism;Christensen;European Journal of Endocrinology,2008

5. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods;Christensen;Clinical Endocrinology (Oxf),2008

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