Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking

BACKGROUND: Hypertriglyceridemia (HTG) is one of the most common etiologies of acute pancreatitis (AP). Variants in five genes involved in the regulation of plasma lipid metabolism, namely LPL, APOA5, APOC2, GPIHBP1 and LMF1, have been frequently reported to cause or predispose to HTG. METHODS: A Ha...

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Vydáno v:Lipids Health Dis
Hlavní autoři: Chen, Wei-Wei, Yang, Qi, Li, Xiao-Yao, Shi, Xiao-Lei, Pu, Na, Lu, Guo-Tao, Tong, Zhi-Hui, Chen, Jian-Min, Li, Wei-Qin
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6421687/
https://ncbi.nlm.nih.gov/pubmed/30885219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12944-019-1012-9
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