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Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.
Minucci A, De Paolis E, Concolino P, De Bonis M, Rizza R, Canu G, Scaglione GL, Mignone F, Scambia G, Zuppi C, Capoluongo E. Minucci A, et al. Among authors: rizza r. Clin Chim Acta. 2017 Jul;470:83-92. doi: 10.1016/j.cca.2017.04.026. Epub 2017 Apr 30. Clin Chim Acta. 2017. PMID: 28465148
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Concolino P, Rizza R, Costella A, Carrozza C, Zuppi C, Capoluongo E. Concolino P, et al. Among authors: rizza r. Metabolism. 2017 Jun;71:46-51. doi: 10.1016/j.metabol.2017.03.003. Epub 2017 Mar 9. Metabolism. 2017. PMID: 28521877 Review.
391 results