(Q39549196)

13 September 2017

title

Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia (English)

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13 September 2017

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10

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13 September 2017

Isabel De Castro-Orós

object named as

Isabel De Castro-Orós

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author name string

Sandra Pampín

2

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13 September 2017

Alfonso Bolado-Carrancio

3

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13 September 2017

Aguirre De Cubas

4

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13 September 2017

Lourdes Palacios

5

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13 September 2017

Nuria Plana

6

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13 September 2017

Jose Puzo

7

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13 September 2017

Esperanza Martorell

8

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13 September 2017

Marianne Stef

9

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13 September 2017

Fernando Civeira

11

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13 September 2017

Jose Carlos Rodríguez-Rey

12

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13 September 2017

Miguel Pocoví

13

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13 September 2017

publication date

12 July 2011

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13 September 2017

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13 September 2017

volume

32

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13 September 2017

issue

8

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13 September 2017

page(s)

868-872

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Promoter variant -204A > C of the cholesterol 7α-hydroxylase gene: association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells.

13 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

Identification of a novel sterol-independent regulatory element in the human low density lipoprotein receptor promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

Molecular spectrum of autosomal dominant hypercholesterolemia in France

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

FH‐Pyrgos: a novel mutation in the promoter (−45delT) of the low‐density lipoprotein receptor gene associated with familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

7 January 2021

Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

7 January 2021

Identification of a novel cis-acting element participating in maximal induction of the human low density lipoprotein receptor gene transcription in response to low cellular cholesterol levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

7 January 2021

Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

7 January 2021

The molecular basis of familial hypercholesterolaemia in Turkish patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

7 January 2021

Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21520

7 January 2021

Identifiers

DOI

10.1002/HUMU.21520

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13 September 2017

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