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.

Abstract

BACKGROUND Mutation screening of the CASR by DNA sequencing is commonly used in the diagnosis of disorders of calcium metabolism, such as familial hypocalciuric hypercalcaemia (FHH). Exon copy number variation is not detected by currently used molecular genetic screening methods, and might be a genetic cause of inherited forms of hyper- or hypocalcaemia… (More)
DOI: 10.1111/j.1365-2265.2009.03750.x

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Cite this paper

@article{Nissen2010MultiplexLP, title={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={Peter Henrik Nissen and Signe Engkj{\ae}r Christensen and Andrew Wallace and Lene Heickendorff and Kim Brixen and Leif Mosekilde}, journal={Clinical endocrinology}, year={2010}, volume={72 6}, pages={758-62} }