Associated Papers
A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.
Sustar U et al.
Frontiers in Genetics, 2022
GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.
Beigneux AP et al.
Circulation Research, 2015
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP et al.
Journal of Internal Medicine, 2012
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.
Buonuomo PS et al.
Journal of Clinical Lipidology, 0
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.
Ariza MJ et al.
Journal of Clinical Lipidology, 0
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.
Rabacchi C et al.
Journal of Clinical Lipidology, 0
Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.
Patni N et al.
Journal of Clinical Lipidology, 0
Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence.
Chyzhyk V et al.
Journal of Clinical Lipidology, 0
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