A G→C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference22 articles.
1. Lipoprotein lipase from bovine milk. Isolation procedure, chemical characterization, and molecular weight analysis
2. Interchange of Apolipoproteins between Chylomicrons and High Density Lipoproteins during Alimentary Lipemia in Man
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1. A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene;Stem Cell Research;2021-05
2. Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency;Journal of Clinical Lipidology;2016-03
3. Genetic Screening of the Lipoprotein Lipase Gene for Mutations in Chinese Subjects with or without Hypertriglyceridemia;Journal of Genetics and Genomics;2007-05
4. Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8;Journal of Lipid Research;2001-07
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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