Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis

BACKGROUND: Variants in the lipoprotein lipase (LPL), apolipoprotein C-II (APOC2), apolipoprotein A-V (APOA5), GPIHBP1 and LMF1 genes may cause severe hypertriglyceridemia (HTG), which is now the second-leading aetiology of acute pancreatitis in China. METHODS: The patient and his family were assess...

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Enregistré dans:
Détails bibliographiques
Publié dans:Lipids Health Dis
Auteurs principaux: Li, Xiaoyao, Yang, Qi, Shi, Xiaolei, Chen, Weiwei, Pu, Na, Li, Weiqin, Li, Jieshou
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6009947/
https://ncbi.nlm.nih.gov/pubmed/29921298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12944-018-0789-2
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