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

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...

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Detalles Bibliográficos
Autores principales: De Bonis, Maria, De Paolis, Elisa, Onori, Maria Elisabetta, Mazzuccato, Giorgia, Gatto, Antonio, Ferrara, Pietro, Ferraro, Pietro Manuel, Urbani, Andrea, Minucci, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172411/
https://www.ncbi.nlm.nih.gov/pubmed/33864587
http://dx.doi.org/10.1007/s11033-021-06324-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172411/
https://www.ncbi.nlm.nih.gov/pubmed/33864587
http://dx.doi.org/10.1007/s11033-021-06324-x

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