Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation

Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation

Item
http://www.wikidata.org/entity/Q34260100
Atherogenesis and metabolic dysregulation in LDL receptor-knockout rats.Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.Chylomicron-retinyl palmitate clearance in type I hyperlipidemic familiesA mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activityLinkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiencyRecessive inheritance of obesity in familial non-insulin-dependent diabetes mellitus, and lack of linkage to nine candidate genes.Lipoprotein lipase as a candidate target for cancer prevention/therapyFamilial dyslipidaemic hypertension and other multiple metabolic syndromes.Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotesEvaluation of seven common lipid associated loci in a large Indian sib pair study.Quantitative trait locus mapping of human blood pressure to a genetic region at or near the lipoprotein lipase gene locus on chromosome 8p22.The pathophysiology of intestinal lipoprotein production.Relative hypoglycemia and hyperinsulinemia in mice with heterozygous lipoprotein lipase (LPL) deficiency. Islet LPL regulates insulin secretion.Adenovirus-mediated rescue of lipoprotein lipase-deficient mice. Lipolysis of triglyceride-rich lipoproteins is essential for high density lipoprotein maturation in mice.Lipid and lipoprotein abnormalities in acute lymphoblastic leukemia survivors.COOH-terminal disruption of lipoprotein lipase in mice is lethal in homozygotes, but heterozygotes have elevated triglycerides and impaired enzyme activity.
P2860

Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation

Item
http://www.wikidata.org/entity/Q34260100
description
1990 nî lūn-bûn
@nan
1990 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
name
Phenotypic expression of heter ...... zygous for a missense mutation
@ast
Phenotypic expression of heter ...... zygous for a missense mutation
@en
Phenotypic expression of heter ...... zygous for a missense mutation
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type
label
Phenotypic expression of heter ...... zygous for a missense mutation
@ast
Phenotypic expression of heter ...... zygous for a missense mutation
@en
Phenotypic expression of heter ...... zygous for a missense mutation
@nl
prefLabel
Phenotypic expression of heter ...... zygous for a missense mutation
@ast
Phenotypic expression of heter ...... zygous for a missense mutation
@en
Phenotypic expression of heter ...... zygous for a missense mutation
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Phenotypic expression of heter ...... zygous for a missense mutation
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932