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Article

Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).

Molecular biology reports - 1 Apr 2021

De Bonis Maria, De Paolis Elisa, Onori Maria Elisabetta, Mazzuccato Giorgia, Gatto Antonio, Ferrara Pietro, Ferraro Pietro Manuel, Urbani Andrea, Minucci Angelo

Abstract excerpt

Pathogenic variants (PVs) in CYP24A1 gene are associated with Idiopathic Infantile Hypercalcemia disease (IIH). The identification of CYP24A1 PVs can be a useful tool for the improvement of target therapeutic strategies. Aim of this study is to set up a rapid and inexpensive High Resolution Melting Analysis (HRMA)-based method for the simultaneous genotyping of two hot spot PVs in CYP24A1 gene, involved in IIH. A...

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Identifiers

PMID: 33864587
DOI: 10.1007/s11033-021-06324-x
PMCID: PMC8172411

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