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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421687/
https://www.ncbi.nlm.nih.gov/pubmed/30885219
http://dx.doi.org/10.1186/s12944-019-1012-9

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