Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

Autor: Cefalù, Angelo B., Spina, Rossella, Noto, Davide, Ingrassia, Valeria, Valenti, Vincenza, Giammanco, Antonina, Fayer, Francesca, Misiano, Gabriella, Cocorullo, Gianfranco, Scrimali, Chiara, Palesano, Ornella, Altieri, Grazia I., Ganci, Antonina, Barbagallo, Carlo M., Averna, Maurizio R.
Zdroj: In Journal of Clinical Lipidology January-February 2017 11(1):272-281
Databáze: ScienceDirect