|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A majority of LPL deficient patients have been reported to have point mutations in the LPL gene; however, we find a complex deletion-insertion mutation by Alu elements, mobile retrotransposons, in a patient with LPL deficiency.
|
17706445 |
2007 |
|
Hyperlipoproteinemia Type I
|
1.000 |
CausalMutation
|
disease |
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 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In Eastern Québec, two major lipoprotein lipase (LPL) gene mutations, P207L and G188E, lead to complete LPL deficiency in homozygote subjects and contribute to elevated predisposition to hypertriglyceridemia in heterozygotes.
|
16630553 |
2006 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Our finding supports L252V mutation in the LPL gene is a common mutation in Chinese with familial hyperchylomicronemia syndrome.
|
16460718 |
2006 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis.
|
16431216 |
2006 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
He was genetically diagnosed as LPL deficiency (homozygous for LPL(Arita)) with no LPL mass or activity in postheparin plasma.
|
16174715 |
2005 |
|
Hyperlipoproteinemia Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
|
15877202 |
2005 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because immunosuppressive treatment can improve this dyslipidemia, assessment of anti-LPL autoantibody is worthwhile in unmanageable chronic major hypertriglyceridemia, even in the presence of a heterozygous LPL deficiency.
|
15840743 |
2005 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
|
15877202 |
2005 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method.
|
14984478 |
2004 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
|
15185149 |
2004 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.
|
12641539 |
2003 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygosity for LPL mutations is an important underlying mechanism for LPL deficiency.
|
11983347 |
2002 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Lipoprotein lipase deficiency and transient diabetes mellitus in a neonate.
|
12408192 |
2002 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
|
12204001 |
2002 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in exon 5 of the LPL gene are the most common reported cause of LPL deficiency.
|
11893776 |
2002 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A review of cases of LPL deficiency with molecular study of the LPL gene showed a total number of 221 reported mutations involved in this disease.
|
11334614 |
2001 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
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 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results add the Gly188Glu mutation to the growing list of LPL gene mutations underlying familial LPL deficiency in Japanese and indicate that the origin of the Gly188Glu mutation is not necessarily common but would be multicentric at least in part.
|
11425044 |
2000 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.
|
11068186 |
2000 |