(Q73001702)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

31 October 2019

main subject

1 reference

K L Khoo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

P van Acker

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

J C Defesche

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

H Tan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

L van de Kerkhof

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

S J Heijnen-van Eijk

6

1 reference

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31 October 2019

J J Kastelein

7

1 reference

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31 October 2019

J P Deslypere

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

publication date

1 August 2000

1 reference

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31 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

2

1 reference

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31 October 2019

page(s)

98-105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

Apolipoprotein B-gene DNA polymorphisms associated with myocardial infarction

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.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.1399-0004.2000.580202.X

7 January 2021

A rapid procedure for extracting genomic DNA from leukocytes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.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.1399-0004.2000.580202.X

7 January 2021

Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

7 January 2021

Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

7 January 2021

Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

7 January 2021

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

7 January 2021

The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580202.X

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/10.1034%2FJ.1399-0004.2000.580202.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.1399-0004.2000.580202.X

7 January 2021

10.1034/J.1399-0004.2000.580202.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11005141%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference