(Q33945290)

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Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6.

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Europe PubMed Central

30 July 2017

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Europe PubMed Central

Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. (English)

1 reference

Europe PubMed Central

30 July 2017

author name string

Gilbert B

1

1 reference

Europe PubMed Central

30 July 2017

Rouis M

2

1 reference

Europe PubMed Central

30 July 2017

Griglio S

3

1 reference

Europe PubMed Central

30 July 2017

de Lumley L

4

1 reference

Europe PubMed Central

30 July 2017

Laplaud P

5

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Europe PubMed Central

30 July 2017

language of work or name

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publication date

1 January 2001

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Europe PubMed Central

30 July 2017

Annales de Génétique

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Europe PubMed Central

30 July 2017

44

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Europe PubMed Central

30 July 2017

1

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Europe PubMed Central

30 July 2017

25-32

1 reference

Europe PubMed Central

30 July 2017

Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene

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A new mutation in the human lipoprotein lipase gene causing familial hyperchylomicronaemia

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Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity

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Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene

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Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent

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A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity

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Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiency

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Compound heterozygosity of Leu252Val and Leu252Arg causing lipoprotein lipase deficiency in a chinese patient with hypertriglyceridemia

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A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family

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Structure of the human lipoprotein lipase gene

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A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

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Assessment of French patients with LPL deficiency for French Canadian mutations

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Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia

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Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia

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Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency

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A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency

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A common mutation in the lipoprotein lipase gene promoter, -93T/G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro

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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)

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Interchange of apolipoproteins between chylomicrons and high density lipoproteins during alimentary lipemia in man.

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Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin

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A New Mutation Destroying Disulphide Bridging in the C-Terminal Domain of Lipoprotein Lipase

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A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis

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Ile225Thr loop mutation in thelipoprotein lipase (LPL) gene is a de novo event

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The molecular genetics of pediatric lipid disorders: recent progress and future research directions

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The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease

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Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women.

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A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.

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A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion.

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A novel frameshift mutation in exon 6 (the site of Asn 291) of the lipoprotein lipase gene in type I hyperlipidemia.

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A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency

1 reference

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A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians

1 reference

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A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia

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Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene

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Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

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A common variant in the gene for lipoprotein lipase (Asp9-->Asn). Functional implications and prevalence in normal and hyperlipidemic subjects.

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Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy

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A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries

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A novel nonsense mutation in exon 1 and a transition in intron 3 of the lipoprotein lipase gene

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Structure and polymorphic map of human lipoprotein lipase gene

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Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients

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A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity

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A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis

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Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing

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The familial chylomicronemia syndrome

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Lipoprotein lipase: structure, function and mechanism of action

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Analysis of the apoC-II gene in apoC-II deficient patients

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Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21

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Identification of homozygous lipoprotein lipase gene mutation in a woman with recurrent aggravation of hypertriglyceridaemia induced by pregnancy

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Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese.

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Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

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Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes

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A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity

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10.1016/S0003-3995(01)01037-1

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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