Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference22 articles.
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2. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency;Babirak;Arteriosclerosis,1989
3. Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: Possible intron-Alu recombination;Benlian;J Lipid Res,1995
4. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the gene for lipoprotein lipase;Benlian;N Engl J Med,1996
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1. Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date;Lipids in Health and Disease;2023-08-11
2. Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia;Lipids in Health and Disease;2022-02-10
3. Chylomicronaemia—current diagnosis and future therapies;Nature Reviews Endocrinology;2015-03-03
4. A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis;Clinica Chimica Acta;2007-11
5. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6;Annales de Génétique;2001-01
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