TY  - GEN
AU  - Kassner,Ursula
AU  - Salewsky,Bastian
AU  - Wühle-Demuth,Marion
AU  - Szijarto,Istvan Andras
AU  - Grenkowitz,Thomas
AU  - Binner,Priska
AU  - März,Winfried
AU  - Steinhagen-Thiessen,Elisabeth
AU  - Demuth,Ilja
TI  - Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants
SN  - 1476-5438
PY  - 2016///0524
KW  - Alleles
KW  - Amino Acid Substitution
KW  - Base Sequence
KW  - Gene Expression
KW  - Heterozygote
KW  - Humans
KW  - Hypertriglyceridemia
KW  - blood
KW  - Lipoprotein Lipase
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Pancreatitis, Chronic
KW  - Protein Structure, Tertiary
KW  - Receptors, Lipoprotein
KW  - Sequence Analysis, DNA
KW  - Severity of Illness Index
KW  - Triglycerides
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/ejhg.2014.295
ER  -