rs118204061
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
|
27055971 |
2016 |
rs118204061
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency.
|
27573733 |
2016 |
rs118204061
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
|
25966443 |
2015 |
rs118204061
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
We studied 3 subjects with familial LPL deficiency; 14 subjects heterozygous for the LPL gene mutations Gly188Glu, Trp64Stop, and Ile194Thr; and 10 control subjects.
|
22095987 |
2012 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.
|
22962670 |
2012 |
rs118204061
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650).
|
17717288 |
2007 |
rs118204061
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations.
|
16972177 |
2006 |
rs118204061
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
|
15877202 |
2005 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
|
15877202 |
2005 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.
|
12641539 |
2003 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
|
12204001 |
2002 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
11099402 |
2000 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.
|
11068186 |
2000 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
10787434 |
2000 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Assessment of French patients with LPL deficiency for French Canadian mutations.
|
9279761 |
1997 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
|
8956052 |
1996 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
|
8778602 |
1996 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.
|
8956048 |
1996 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.
|
8135797 |
1994 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.
|
7906986 |
1994 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia.
|
7806969 |
1994 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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).
|
8288243 |
1993 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
|
8325986 |
1993 |
rs118204061
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
The molecular defects in lipoprotein lipase deficient patients.
|
1505655 |
1992 |
rs118204061
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.
|
1400331 |
1992 |