(Q57840164)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903269%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903269%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

0 references

0 references

1 reference

familial hypercholesterolemia

1 reference

6

1 reference

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28 October 2019

author name string

J C Defesche

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903269%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

D E van Diermen

2

1 reference

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28 October 2019

P J Lansberg

3

1 reference

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28 October 2019

R J Lamping

4

1 reference

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28 October 2019

P W Reymer

5

1 reference

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28 October 2019

J J Kastelein

7

1 reference

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28 October 2019

publication date

1 December 1993

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28 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903269%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

92

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28 October 2019

page(s)

567-570

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28 October 2019

issue

6

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00420940

28 October 2019

exact match

0 references

cites work

The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.

1 reference

12 December 2020

A host of hypercholesterolaemic homozygotes in South Africa.

1 reference

12 December 2020

Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Polymorphic DNA haplotypes at the LDL receptor locus

1 reference

12 December 2020

The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community

1 reference

12 December 2020

Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients

1 reference

12 December 2020

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

12 December 2020

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia

1 reference

12 December 2020

TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia

1 reference

12 December 2020

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

12 December 2020

Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

1 reference

12 December 2020

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

1 reference

12 December 2020

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

12 December 2020

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00420940

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903269%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference