(Q73741086)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

homozygous familial hypercholesterolemia

6 November 2019

main subject

0 references

1 reference

M Takahashi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

U Ikeda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S Takahashi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

H Hattori

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

T Iwasaki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M Ishihara

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

T Egashira

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S Honma

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Y Asano

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K Shimada

10

1 reference

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6 November 2019

publication date

1 April 2001

1 reference

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6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

4

1 reference

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6 November 2019

page(s)

290-292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

A receptor-mediated pathway for cholesterol homeostasis

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590414.X

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/10.1034%2FJ.1399-0004.2001.590414.X

7 January 2021

Evidence of macrophage foam cell formation by very low-density lipoprotein receptor: interferon-gamma inhibition of very low-density lipoprotein receptor expression and foam cell formation in macrophages

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590414.X

7 January 2021

Cardiovascular features of homozygous familial hypercholesterolemia: Analysis of 16 patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590414.X

7 January 2021

The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590414.X

7 January 2021

Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590414.X

7 January 2021

A deletion in the first cysteine-rich repeat of the low-density-lipoprotein receptor leads to the formation of multiple misfolded isomers.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590414.X

7 January 2021

10.1034/J.1399-0004.2001.590414.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298688%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference