(Q35938094)

11 August 2017

1 reference

title

LDL-receptor mutations in Europe (English)

1 reference

11 August 2017

George V Z Dedoussis

1

1 reference

11 August 2017

Hartmut Schmidt

series ordinal

2

1 reference

11 August 2017

Janine Genschel

series ordinal

3

1 reference

11 August 2017

publication date

1 December 2004

1 reference

11 August 2017

1 reference

11 August 2017

volume

24

1 reference

11 August 2017

issue

6

1 reference

11 August 2017

page(s)

443-459

1 reference

Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia

11 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

Families and natural history of lipids in childhood: an 18-year follow-up study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Lipid profiles reflecting high and low risk for coronary heart disease: contribution of apolipoprotein E polymorphism and lifestyle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Delayed chylomicron remnant clearance in subjects with heterozygous familial hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Two novel slavic point mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg, Russia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Molecular mechanisms of autosomal recessive hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Apolipoprotein E polymorphism association with lipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Genetic tests for familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

FH‐Pyrgos: a novel mutation in the promoter (−45delT) of the low‐density lipoprotein receptor gene associated with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Molecular characterization of familial hypercholesterolemia in German and Greek patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Recent 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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Coronary Artery Disease in Heterozygous Familial Hypercholesterolemia Patients With the Same LDL Receptor Gene Mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Identification of a 76-year-old patient with compound heterozygous Familial Hypercholesterolemia by haplotype analysis of the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The molecular basis of familial hypercholesterolemia in The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Effect of low-density lipoproteins on apolipoprotein AI kinetics in heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Heterozygous familial hypercholesterolemia: Failure of normal allele to compensate for mutant allele at a regulated genetic locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A G-1-to-A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Allele-specific measurement of low-density lipoprotein receptor transcript levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Promoter-specific activation of RNA polymerase II transcription by Sp1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A cholesterol-lowering gene maps to chromosome 13q.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The 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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The Role of a Common Variant of the Cholesteryl Ester Transfer Protein Gene in the Progression of Coronary Atherosclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Molecular genetics of familial hypercholesterolaemia in Norway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Accumulation of chylomicron remnants in homozygous subjects with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Impact of different low-density lipoprotein (LDL) receptor mutations on the ability of LDL to support lymphocyte proliferation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Familial defective apolipoprotein B-100: a mutation emerged in the mesolithic ancestors of Celtic peoples?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Homozygous familial hypercholesterolemia among French Canadians in Québec Province

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Low-density lipoprotein receptor-deficient mice are protected against lethal endotoxemia and severe gram-negative infections

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Clinically applicable mutation screening in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Multiplex PCR assay for screening deletions in the low density lipoprotein receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Flow cytometric assessment of LDL receptor activity in peripheral blood mononuclear cells compared to gene mutation detection in diagnosis of heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Molecular genetics of familial hypercholesterolemia in Israel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A novel missense mutation C127R (FH Zagreb) in the LDL-receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Cooperation by sterol regulatory element-binding protein and Sp1 in sterol regulation of low density lipoprotein receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

In vivo metabolism of apolipoprotein A-I in a patient with homozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Increased production of HDL ApoA-I in homozygous familial defective ApoB-100

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

42 bp element from LDL receptor gene confers end-product repression by sterols when inserted into viral TK promoter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A Q136Stop mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Software and database for the analysis of mutations in the human LDL receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The Sequence of the Human Genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The UMD-LDLR database: additions to the software and 490 new entries to the database.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Molecular mechanisms of autosomal recessive hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20105

7 January 2021

Identifiers

DOI

10.1002/HUMU.20105

1 reference

11 August 2017

1 reference