Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia

Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia

BackgroundType I hyperlipoproteinemia, characterized by severe hypertriglyceridemia, is caused mainly by loss-of-function mutation of the lipoprotein lipase (LPL) gene. To date, more than 200 mutations in the LPL gene have been reported, while only a limited number of mutations have been evaluated f...

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Bibliographic Details
Main Authors: Shuping Wang, Yiping Cheng, Yingzhou Shi, Wanyi Zhao, Ling Gao, Li Fang, Xiaolong Jin, Xiaoyan Han, Qiuying Sun, Guimei Li, Jiajun Zhao, Chao Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Endocrinology
Subjects:
lipoprotein lipase (LPL)
type 1
hypertriglyceridemia
variants
pedigree
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.874608/full

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https://www.frontiersin.org/articles/10.3389/fendo.2022.874608/full

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