×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.
30559189
2019
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia .
27578112
2017
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
This study provides a conceptual framework for understanding intravascular lipolysis and GPIHBP1 and LPL mutations causing familial chylomicronemia .
26725083
2016
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GermlineCausalMutation
ORPHANET
Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene.
24589565
2014
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
15877202
2005
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method.
14984478
2004
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
15185149
2004
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
15256764
2004
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.
12641539
2003
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
Biomarker
GENOMICS_ENGLAND
Lipoprotein lipase deficiency and transient diabetes mellitus in a neonate.
12408192
2002
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
12204001
2002
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Missense mutations in exon 5 of the LPL gene are the most common reported cause of LPL deficiency .
11893776
2002
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8.
11441134
2001
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
The primary LPL deficiency was diagnosed on the basis of the findings that no LPL activity was detected in post-heparin plasma (PHP) and that the immunoreactive LPL mass in PHP was less than 2% of the control level.
11099402
2000
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
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
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
A newly identified lipoprotein lipase (LPL ) gene mutation (F270L) in a Japanese patient with familial LPL deficiency .
11068186
2000
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
In conclusion, we have identified a novel loss of function mutation in the LPL gene (Cys(239 )-->Trp) of a patient with type I hyperlipoproteinemia suffering from severe recurrent pancreatitis.
11134145
2000
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Familial chylomicronemia is an autosomal recessive disease characterised by fasting triglyceridemia and an absence of lipoprotein lipase (LpL ) activity in post-heparin plasma.
10660334
1998
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects.
9719626
1998
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis.
9498099
1998
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Mutations in the lipoprotein lipase (LPL ) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date.
9714430
1998
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Assessment of French patients with LPL deficiency for French Canadian mutations.
9279761
1997
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations.
9298816
1997
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
8778602
1996