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Article

Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.

Journal of cellular and molecular medicine - 1 Jan 2020

Han Peng, Wei Guohong, Cai Ke, Xiang Xi, Deng Wang Ping, Li Yan Bing, Kuang Shan, Dong Zhanying, Zheng Tianyu, Luo Yonglun, Liu Junnian, Guan Yuanning, Li Chen, Dey Subrata Kumar, Liao Zhihong, Banerjee Santasree

Abstract excerpt

Hypertriglyceridaemia is a very rare disorder caused by the mutations of LPL gene, with an autosomal recessive mode of inheritance. Here, we identified two unrelated Chinese patients manifested with severe hypertriglyceridaemia and acute pancreatitis. The clinical symptoms of proband 1 are more severe than proband 2. Whole exome sequencing and Sanger sequencing were performed. Functional analysis of the...

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Identifiers

PMID: 31901151
DOI: 10.1111/jcmm.14768
PMCID: PMC6991700

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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