(Q28141056)

2

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H Funke

3

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J Real

4

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Z Amoura

5

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J C Piette

6

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J F Deleuze

7

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H B Brewer

8

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N Duverger

9

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P Denèfle

10

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G Assmann

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

11

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language of work or name

English

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publication date

August 1999

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published in

Nature Genetics

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volume

22

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issue

4

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page(s)

352-5

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cites work

1 reference

7 January 2021

Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages.

1 reference

7 January 2021

Cloning of two novel ABC transporters mapping on human chromosome 9

1 reference

7 January 2021

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

1 reference

7 January 2021

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

1 reference

7 January 2021

The ATP binding cassette transporter ABC1, is required for the engulfment of corpses generated by apoptotic cell death.

1 reference

7 January 2021

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

7 January 2021

Mutations in the MDR 3 gene cause progressive familial intrahepatic cholestasis

1 reference

7 January 2021

ABC1, an ATP binding cassette transporter required for phagocytosis of apoptotic cells, generates a regulated anion flux after expression in Xenopus laevis oocytes

1 reference

7 January 2021

The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects

1 reference

7 January 2021

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

1 reference

7 January 2021

Scavenger receptor, class B, type I-dependent stimulation of cholesterol esterification by high density lipoproteins, low density lipoproteins, and nonlipoprotein cholesterol

1 reference

7 January 2021

Murine SR-BI, a high density lipoprotein receptor that mediates selective lipid uptake, is N-glycosylated and fatty acylated and colocalizes with plasma membrane caveolae

1 reference

7 January 2021

In vivo metabolism of proapolipoprotein A-I in Tangier disease

1 reference

7 January 2021

YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31.

1 reference

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

7 January 2021