(Q46919866)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

L Mannucci

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

O Guardamagna

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

P Bertucci

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

L Pisciotta

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

L Liberatoscioli

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

S Bertolini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

G Federici

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

C Cortese

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

1 November 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Clinical Investigation

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

37

1 reference

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9 January 2020

page(s)

997-1000

1 reference

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9 January 2020

issue

12

1 reference

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Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

Genetic basis of sitosterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

ABCG5 and ABCG8 Are Obligate Heterodimers for Protein Trafficking and Biliary Cholesterol Excretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

Phenotypic heterogeneity of sitosterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

Sterolins ABCG5 and ABCG8: regulators of whole body dietary sterols

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

A model recognition approach to the prediction of all-helical membrane protein structure and topology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2007.01880.X

10.1111/J.1365-2362.2007.01880.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976197%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference