(Q45041602)

English

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry

scientific article published in May 1999

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scholarly article

1 reference

Europe PubMed Central

8 December 2017

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry (English)

1 reference

Europe PubMed Central

8 December 2017

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hypercholesterolemia

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familial hypercholesterolemia

1 reference

based on heuristic

inferred from title

author name string

Loubser O

1

1 reference

Europe PubMed Central

8 December 2017

Marais AD

2

1 reference

Europe PubMed Central

8 December 2017

Kotze MJ

3

1 reference

Europe PubMed Central

8 December 2017

Godenir N

4

1 reference

Europe PubMed Central

8 December 2017

Thiart R

5

1 reference

Europe PubMed Central

8 December 2017

Scholtz CL

6

1 reference

Europe PubMed Central

8 December 2017

de Villiers JN

7

1 reference

Europe PubMed Central

8 December 2017

Hillermann R

8

1 reference

Europe PubMed Central

8 December 2017

Firth JC

9

1 reference

Europe PubMed Central

8 December 2017

Weich HF

10

1 reference

Europe PubMed Central

8 December 2017

Maritz F

11

1 reference

Europe PubMed Central

8 December 2017

Jones S

12

1 reference

Europe PubMed Central

8 December 2017

van der Westhuyzen DR

13

1 reference

Europe PubMed Central

8 December 2017

publication date

1 May 1999

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Europe PubMed Central

8 December 2017

Clinical Genetics

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Europe PubMed Central

8 December 2017

55

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Europe PubMed Central

8 December 2017

5

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Europe PubMed Central

8 December 2017

340-345

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Europe PubMed Central

8 December 2017

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

A host of hypercholesterolaemic homozygotes in South Africa.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Prevalence of familial hypercholesterolemia in Johannesburg Jews

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

A rapid method for the isolation of genomic DNA from citrated whole blood

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Epidemiology of serum lipids in Southern Africa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

21 January 2018

CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A new LDL receptor gene deletion mutation in the South African population

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550507.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.1999.550507.X

1 reference

Europe PubMed Central

8 December 2017

1 reference

Europe PubMed Central

8 December 2017

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