(Q73482711)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

N Weiss

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

G Binder

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Keller

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

778-790

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196104%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1026704517598

4 November 2019

exact match

0 references

cites work

Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25–49 years) versus middle-aged (50–64 years) men

1 reference

12 December 2020

Genetic determinants of responsiveness to the HMG-CoA reductase inhibitor fluvastatin in patients with molecularly defined heterozygous familial hypercholesterolemia.

1 reference

12 December 2020

The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.

1 reference

12 December 2020

Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene

1 reference

12 December 2020

Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion

1 reference

12 December 2020

Genotypic and phenotypic variation in familial hypercholesterolemia

1 reference

12 December 2020

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

12 December 2020

Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

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

12 December 2020

Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia

1 reference

12 December 2020

Influence of genetic variability in the nondeletion LDL-receptor allele on phenotypic variation in French-Canadian familial hypercholesterolemia heterozygotes sharing a 'null' LDL-receptor gene defect

1 reference

12 December 2020

Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of common genetic polymorphisms in the LDL receptor gene in affecting plasma cholesterol levels in the general population

1 reference

12 December 2020

Allele-specific and asymmetric polymerase chain reaction amplification in combination: a one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100.

1 reference

12 December 2020

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

12 December 2020

Plasma level and gene polymorphism of angiotensin-converting enzyme in relation to myocardial infarction

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

1 reference

12 December 2020

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

1 reference

12 December 2020

Multiplex-PCR-based single-strand conformation polymorphism protocol for simultaneous analysis of up to five fragments of the low-density-lipoprotein receptor gene

1 reference

12 December 2020

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

1 reference

12 December 2020

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population

1 reference

12 December 2020

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1 reference

12 December 2020

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

12 December 2020

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia

1 reference

12 December 2020

Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom

1 reference

12 December 2020

Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.

1 reference

12 December 2020

Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia

1 reference

12 December 2020

Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport

1 reference

12 December 2020

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

12 December 2020