present in Gene: LPL
present in Chromosome: 8
Position on Chromosome: 19956048
Alleles of this Variant: T/C
rs1181582051 in
LPL gene and
Hyperlipoproteinemia Type I
PMID 11099402 2000 A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
PMID 10787434 2000 Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.
PMID 12204001 2002 Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
PMID 1598907 1992 A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
PMID 2010533 1991 Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
PMID 15877202 2005 Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
PMID 1400331 1992 Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.
PMID 11068186 2000 A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.
PMID 12641539 2003 Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.
PMID 8956048 1996 Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.
PMID 1674945 1991 Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
PMID 8325986 1993 Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
PMID 1969408 1990 Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.
PMID 7906986 1994 Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.
PMID 8135797 1994 A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.
PMID 7806969 1994 A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia.
PMID 8778602 1996 Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
PMID 8288243 1993 A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
PMID 8956052 1996 A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
PMID 9279761 1997 Assessment of French patients with LPL deficiency for French Canadian mutations.