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

doi:10.1016/j.jacl.2017.01.003

Article

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

Journal of clinical lipidology - 1 Jan 2000

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

Abstract excerpt

BACKGROUND: Severe hypertriglyceridemia (HTG) may result from mutations in genes affecting the intravascular lipolysis of triglyceride (TG)-rich lipoproteins. OBJECTIVE: The aim of this study was to develop a targeted next-generation sequencing panel for the molecular diagnosis of disorders characterized by severe HTG. METHODS: We developed a targeted customized panel for next-generation sequencing Ion Torrent...

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

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