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Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis

Lipoprotein lipase (LPL) is widely expressed in skeletal muscles, cardiac muscles as well as adipose tissue and involved in the catabolism of triglyceride. Herein we have systematically characterized two novel loss-of-function mutations in LPL from a Chinese family in which afflicted members were ma...

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Bibliografski detalji
Izdano u:Oncotarget
Glavni autori: Lun, Yu, Sun, Xiaofang, Wang, Ping, Chi, Jingwei, Hou, Xu, Wang, Yangang
Format: Artigo
Jezik:Inglês
Izdano: Impact Journals LLC 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5564601/
https://ncbi.nlm.nih.gov/pubmed/28548960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.17762
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