×
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 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
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
Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
1702428 1991
×
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
In vitro mutagenesis revealed that the Ser172-->Cys mutation caused a mutant LPL protein that had residual activity higher than that seen in all eight other missense mutations in patients with LPL deficiency identified in our laboratory.
8486765 1993
×
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
Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity.
2110364 1990
×
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
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.
1400331 1992
×
Entrez Id: 4023
Gene Symbol: LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Molecular basis of familial chylomicronemia : mutations in the lipoprotein lipase and apolipoprotein C-II genes.
1479292 1992
×
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
Mutations in the lipoprotein lipase (LPL ) gene are the most common cause of familial chylomicronemia .
7906986 1994
×
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
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
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
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
×
Entrez Id: 4023
Gene Symbol: LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase.
8301230 1993
×
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
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
Studies of site-directed in vitro mutagenesis have confirmed that this mutation generates inactive lipoprotein lipase and is the cause of lipoprotein lipase deficiency .
2038366 1991
×
Entrez Id: 4023
Gene Symbol: LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
The molecular characterization of the LPL gene in these three patients with partial LPL deficiency revealed four novel unpublished mutations.
8077845 1994
×
Entrez Id: 4023
Gene Symbol: LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
The mutant LPL s, Asp156----Gly and Asp156----Gly/Ser447----Ter, were devoid of enzyme activity, indicating that the Asp156----Gly mutation is the underlying defect for the LPL deficiency in the two patients.
1907278 1991
×
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