Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.

Kassner, Ursula

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