(Q53853198)

English

Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.

scientific article published in December 1991

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scholarly article

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas. (English)

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

hypercholesterolemia

0 references

1 reference

based on heuristic

inferred from title

author name string

F Graadt van Roggen

1

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

D R van der Westhuyzen

2

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

A D Marais

3

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

W Gevers

4

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

G A Coetzee

5

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

publication date

1 December 1991

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

88

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

2

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

204-208

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

https://scigraph.springernature.com/pub.10.1007/bf00206073

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A host of hypercholesterolaemic homozygotes in South Africa.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chylomicron remnant clearance from the plasma is normal in familial hypercholesterolemic homozygotes with defined receptor defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolemic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association between familial hypercholesterolaemia and church affiliation. Is this the result of sociocultural isolation of migrant farmers in 19th-century South Africa?

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited disorders in the Afrikaner population of southern Africa. Part I. Historical and demographic background, cardiovascular, neurological, metabolic and intestinal conditions.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relevance of ancestral surname identification in pedigrees of Afrikaner families with familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757095

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00206073

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

release_rrfcohid75ff7d4yhibjmolrye

1 reference

https://api.fatcat.wiki/v0/release/rrfcohid75ff7d4yhibjmolrye

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

21 May 2018

http://europepmc.org/abstract/MED/1757095

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