(Q73589355)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

5 November 2019

main subject

1 reference

M P Lombardi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

E J Redeker

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J C Defesche

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S W Kamerling

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M D Trip

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M M Mannens

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

L M Havekes

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J J Kastelein

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 February 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

116-124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Genetic tests for familial hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

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/10.1034%2FJ.1399-0004.2000.570205.X

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/10.1034%2FJ.1399-0004.2000.570205.X

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/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Application of long polymerase chain reaction in the study of the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

An alanine29-serine variant in exon 2 of the low density lipoprotein receptor gene: no association with hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

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/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Cell transplantation in liver-directed gene therapy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Is responsiveness to lovastatin in familial hypercholesterolaemia heterozygotes influenced by the specific mutation in the low-density lipoprotein receptor gene?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

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/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

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/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570205.X

7 January 2021

10.1034/J.1399-0004.2000.570205.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735632%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference