×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.
1521525
1992
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
We conclude: (a) diabetic carriers of dysfunctional LPL alleles are at risk for severe lipemia; and (b) the physiologic defects in NIDDM may be additive or synergistic with heterozygous LPL deficiency .
8325986
1993
×
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
We have previously reported two common lipoprotein lipase (LPL ) gene mutations underlying LPL deficiency in the majority of 37 French Canadians (Monsalve et al., 1990.J. Clin.Invest.86: 728-734; Ma et al., 1991.N. Engl.J. Med.324: 1761-1766).
1639392
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
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
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
×
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
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
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
A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency .
1619366
1992
×
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
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
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
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia .
8956052
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
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
A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.
8858123
1996
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
We have studied the genetic basis of LPL deficiency in a 62-year-old black male with undetectable pre- and post-heparin plasma LPL mass and activity, DNA sequence analysis of the patient's LPL cDNA and gene as well as digestion with Bcl I and Asu I revealed that the proband is a homozygote for two separate gene defects.
8728326
1996
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency .
1752947
1991
×
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
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
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
A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia .
7806969
1994
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
1.000
GeneticVariation
UNIPROT
A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia .
1598907
1992