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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Detalles Bibliográficos
Autores principales: Lun, Yu, Sun, Xiaofang, Wang, Ping, Chi, Jingwei, Hou, Xu, Wang, Yangang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564601/
https://www.ncbi.nlm.nih.gov/pubmed/28548960
http://dx.doi.org/10.18632/oncotarget.17762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564601/
https://www.ncbi.nlm.nih.gov/pubmed/28548960
http://dx.doi.org/10.18632/oncotarget.17762

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