Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5615381 | Journal of Clinical Lipidology | 2017 | 18 Pages |
Abstract
We showed that our targeted resequencing approach for genetic diagnosis of severe HTG appears to be accurate, less time consuming, and more economical compared with traditional Sanger resequencing. The identification of pathogenic mutations in candidate genes remains challenging and clinical resequencing should mainly intended for patients with strong clinical criteria for monogenic severe HTG.
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Authors
Angelo B. Cefalù, Rossella Spina, Davide Noto, Valeria Ingrassia, Vincenza Valenti, Antonina Giammanco, Francesca Fayer, Gabriella Misiano, Gianfranco Cocorullo, Chiara Scrimali, Ornella Palesano, Grazia I. Altieri, Antonina Ganci, Carlo M. Barbagallo,