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Article

Identification of rare and frequent variants of the CASR gene by high-resolution melting.

Clinica chimica acta; international journal of clinical chemistry - 22 Mar 2012

Nissen Peter H, Christensen Signe E, Ladefoged Søren A, Brixen Kim, Heickendorff Lene, Mosekilde Leif

Abstract excerpt

BACKGROUND: Calcium metabolic disorders like familial hypocalciuric hypercalcemia (FHH) and autosomal dominant familial isolated hypoparathyroidism (FIH) can be caused by rare variants of the calcium sensing receptor gene (CASR). Molecular genetic screening of the CASR is often based on DNA sequencing. METHODS: We sought to develop a pre-screening method in the diagnostic procedure and pursued variant scanning by...

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Source

Identifiers

PMID: 22192860
DOI: 10.1016/j.cca.2011.12.004

Genes

CASR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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