Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference26 articles.
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1. Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia;Journal of Lipid Research;2019-11
2. 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
3. The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil;Brazilian Journal of Medical and Biological Research;1999-06
4. The Ser447–Ter mutation of the lipoprotein lipase gene relates to variability of serum lipid and lipoprotein levels in monozygotic twins;Journal of Lipid Research;1998-02
5. Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia;Human Mutation;1998
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