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Novel LMF1 Nonsense Mutation in a Patient with Severe Hypertriglyceridemia

Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was fo...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Cefalù, Angelo B., Noto, Davide, Arpi, Maria Luisa, Yin, Fen, Spina, Rossella, Hilden, Hannele, Barbagallo, Carlo M., Carroccio, Antonio, Tarugi, Patrizia, Squatrito, Sebastiano, Vigneri, Riccardo, Taskinen, Marja-Riitta, Péterfy, Miklós, Averna, Maurizio R.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: The Endocrine Society 2009
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2819827/
https://ncbi.nlm.nih.gov/pubmed/19820022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-0594
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