(Q57241088)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533863%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux (English)

1 reference

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1 November 2019

3

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1 November 2019

Christoph W. Sensen

12

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1 November 2019

Michael R. Hayden

20

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1 November 2019

author name string

M Marcil

1

1 reference

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1 November 2019

A Brooks-Wilson

2

1 reference

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1 November 2019

K Roomp

4

1 reference

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1 November 2019

L H Zhang

5

1 reference

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1 November 2019

L Yu

6

1 reference

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1 November 2019

J A Collins

7

1 reference

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1 November 2019

M van Dam

8

1 reference

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1 November 2019

H O Molhuizen

9

1 reference

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1 November 2019

O Loubster

10

1 reference

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1 November 2019

B F Ouellette

11

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1 November 2019

K Fichter

13

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1 November 2019

S Mott

14

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1 November 2019

M Denis

15

1 reference

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1 November 2019

B Boucher

16

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1 November 2019

S Pimstone

17

1 reference

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1 November 2019

J Genest

18

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1 November 2019

J J Kastelein

19

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1 November 2019

language of work or name

English

0 references

publication date

1 October 1999

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1 November 2019

1 reference

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1 November 2019

volume

354

1 reference

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1 November 2019

page(s)

1341-1346

1 reference

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1 November 2019

issue

9187

1 reference

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Mortality by cause for eight regions of the world: Global Burden of Disease Study

1 November 2019

cites work

1 reference

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7 January 2021

A prospective study of cholesterol, apolipoproteins, and the risk of myocardial infarction

1 reference

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7 January 2021

Lipoprotein cholesterol, apolipoprotein A-I and B and lipoprotein (a) abnormalities in men with premature coronary artery disease.

1 reference

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7 January 2021

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis

1 reference

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7 January 2021

Heterogeneity at the CETP Gene Locus

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency

1 reference

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7 January 2021

Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization.

1 reference

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7 January 2021

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients

1 reference

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7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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7 January 2021

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

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7 January 2021

Large-scale production of DNA sequencing templates by microtitre format PCR.

1 reference

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7 January 2021

Familial lipoprotein disorders in patients with premature coronary artery disease

1 reference

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7 January 2021

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

1 reference

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7 January 2021

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

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7 January 2021

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

Cystic fibrosis: genotypic and phenotypic variations

1 reference

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7 January 2021

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

1 reference

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7 January 2021

Genetic analysis of the multidrug transporter

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7 January 2021

Alteration of Substrate Specificity by Mutations at the His61Position in Predicted Transmembrane Domain 1 of Human MDR1/P-Glycoprotein†

1 reference

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7 January 2021

Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome

1 reference

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7 January 2021

Amino acid substitutions in the first transmembrane domain (TM1) of P-glycoprotein that alter substrate specificity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

Familial HDL deficiency characterized by hypercatabolism of mature apoA-I but not proapoA-I

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

Familial HDL deficiency due to marked hypercatabolism of normal apoA-I

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2907026-9

7 January 2021

10.1016/S0140-6736(99)07026-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533863%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference