(Q40108311)

17 September 2017

title

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

1 reference

17 September 2017

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Andrew J P Smith

1

1 reference

17 September 2017

Fayha Ahmed

2

1 reference

17 September 2017

Devi Nair

3

1 reference

17 September 2017

Ros Whittall

4

1 reference

17 September 2017

Darrell Wang

5

1 reference

17 September 2017

Alison Taylor

6

1 reference

17 September 2017

Gail Norbury

7

1 reference

17 September 2017

Steve E Humphries

8

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17 September 2017

publication date

11 July 2007

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European Journal of Human Genetics

17 September 2017

published in

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17 September 2017

volume

15

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17 September 2017

issue

11

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17 September 2017

page(s)

1186-1189

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201897

17 September 2017

exact match

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cites work

LDL-receptor mutations in Europe

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201897

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201897

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/10.1038%2FSJ.EJHG.5201897

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/10.1038%2FSJ.EJHG.5201897

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201897

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/10.1038%2FSJ.EJHG.5201897

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201897

inferred from DOI database lookup

7 January 2021

based on heuristic

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201897

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201897

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201897

1 reference

Dimensions Publication ID

17 September 2017

1006087038

0 references

1 reference