Common low-density lipoprotein receptor mutations in the French Canadian population
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in RussiaRecent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.The single ligand-binding repeat of Tva, a low density lipoprotein receptor-related protein, contains two ligand-binding surfaces.Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels.Mutant oocytic low density lipoprotein receptor gene family member causes atherosclerosis and female sterilityLinkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiencyHeterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease.Familial hypercholesterolemia: current treatment and advances in management.Gene polymorphism and coronary risk factors in Indian population.Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormoneA large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia)A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor geneThe familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptorDetection of four new TaqI alleles with probe St14-1A HaeIII polymorphism in the 3' untranslated region of the low density lipoprotein receptor (LDLR) gene.A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Molecular basis of familial hypercholesterolemia: An Indian experienceThe use of PCR in diagnosing lipoprotein disorders.The restricted ovulator chicken strain: an oviparous vertebrate model of reproductive dysfunction caused by a gene defect affecting an oocyte-specific receptor.Characterization of the LDL-A module mutants of Tva, the subgroup A Rous sarcoma virus receptor, and the implications in protein folding.Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.Genetic screening for homozygous and heterozygous familial hypercholesterolemiaLipid transport to avian oocytes and to the developing embryo.Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes.Microsomal transfer protein (MTP) inhibition-a novel approach to the treatment of homozygous hypercholesterolemia.A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.Software and database for the analysis of mutations in the human LDL receptor gene.A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians.Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia.LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy.Intestinal fatty acid binding protein and microsomal triglyceride transfer protein polymorphisms in French-Canadian youth.
P2860
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P2860
Common low-density lipoprotein receptor mutations in the French Canadian population
description
1990 nî lūn-bûn
@nan
1990 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի ապրիլին 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
Common low-density lipoprotein receptor mutations in the French Canadian population
@ast
Common low-density lipoprotein receptor mutations in the French Canadian population
@en
Common low-density lipoprotein receptor mutations in the French Canadian population
@nl
type
label
Common low-density lipoprotein receptor mutations in the French Canadian population
@ast
Common low-density lipoprotein receptor mutations in the French Canadian population
@en
Common low-density lipoprotein receptor mutations in the French Canadian population
@nl
prefLabel
Common low-density lipoprotein receptor mutations in the French Canadian population
@ast
Common low-density lipoprotein receptor mutations in the French Canadian population
@en
Common low-density lipoprotein receptor mutations in the French Canadian population
@nl
P2093
P2860
P356
P1476
Common low-density lipoprotein receptor mutations in the French Canadian population
@en
P2093
E Leitersdorf
J Davignon
P2860
P304
P356
10.1172/JCI114531
P407
P577
1990-04-01T00:00:00Z