Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants

Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants

Abstract Background Lipoprotein lipase (LPL) plays a crucial role in triglyceride hydrolysis. Rare biallelic variants in the LPL gene leading to complete or near-complete loss of function cause autosomal recessive familial chylomicronemia syndrome. However, rare biallelic LPL variants resulting in s...

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Bibliographic Details
Main Authors: Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Lipids in Health and Disease
Subjects:
Biallelic variants
Compound heterozygote
Disease expression and severity
Familial chylomicronemia syndrome
Genotype/phenotype relationship
Hypertriglyceridemia-induced acute pancreatitis during pregnancy
Online Access:https://doi.org/10.1186/s12944-024-02086-0

Internet

https://doi.org/10.1186/s12944-024-02086-0

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