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Journal: Genes, 2023
Volume: 14
Number: 1275

Article: Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family
Authors: by Paola Concolino, Elisa De Paolis, Simona Moffa, Maria Elisabetta Onori, Laura Soldovieri, Claudio Ricciardi Tenore, Maria De Bonis, Claudio Rabacchi, Concetta Santonocito, Martina Rinelli, Sebastiano Calandra, Andrea Giaccari, Andrea Urbani and Angelo Minucci
Link: https://www.mdpi.com/2073-4425/14/6/1275

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