2018•AtherosclerosisRequires access

Detection of copy number variations (CNVS) in LDLR gene by next generation sequencing in patients with familial hypercholesterolemia

Chiara Scrimali, Rossella Spina, Valeria Ingrassia, Angelo Baldassare Cefalu, Víctor Valentí, Grazia Ida Altieri, Davide Noto, Federica Brucato, Gabriella Misiano, Antonina Giammanco, Carlo Maria Barbagallo, Antonina Ganci, Francesca Fayer, Maurizio Rocco Averna

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Key concepts: Multiplex ligation-dependent probe amplification, Copy-number variation, Familial hypercholesterolemia, Multiplex, Genetics, Gene, Biology, LDL receptor