Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants. [electronic resource]
- European journal of human genetics : EJHG Sep 2015
- 1259-61 p. digital
Publication Type: Case Reports; Journal Article
1476-5438
10.1038/ejhg.2014.295 doi
Alleles Amino Acid Substitution Base Sequence Gene Expression Heterozygote Humans Hypertriglyceridemia--blood Lipoprotein Lipase--blood Male Middle Aged Molecular Sequence Data Mutation, Missense Pancreatitis, Chronic--blood Protein Structure, Tertiary Receptors, Lipoprotein--blood Sequence Analysis, DNA Severity of Illness Index Triglycerides--blood