Associated Papers
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
39858602 (PubMed )
Supplement: genes-16-00055-s001.zip › genes-3401157-supplementary.pdf
Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report.
Han L et al.
Medicine, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Generation of a gene-corrected isogenic iPSC line (AHQUi001-A-1) from a patient with familial hypertriglyceridemia (FHTG) carrying a heterozygous p.C310R (c.928 T > C) mutation in LPL gene using CRISPR/Cas9.
Sun X et al.
Stem Cell Research, 2021
Lpl-C310R mutation is associated with impaired glucose tolerance and endoplasmic reticulum stress in skeletal muscle.
Yue XY et al.
Biochemical and Biophysical Research Communications, 2020
Generation of the induced pluripotent stem cell(iPSC) line (AHQUi001-A) from a patient with familial hypertriglyceridemia (FHTG) carrying a heterozygous p.C310R (c.928 T > C) mutation in LPL gene.
Sun X et al.
Stem Cell Research, 2020
Rare LPL gene missense mutation in an infant with hypertriglyceridemia.
Qin YY et al.
Journal of Clinical Laboratory Analysis, 2018
Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis.
Lun Y et al.
Oncotarget, 2017
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