A new LDL receptor gene deletion mutation in the South African population (Q67980053)

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scientific article published on 01 December 1988

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Language	Label	Description	Also known as
English	A new LDL receptor gene deletion mutation in the South African population	scientific article published on 01 December 1988

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

title

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

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

author name string

H E Henderson

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

G M Berger

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

A D Marais

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

publication date

1 December 1988

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

published in

Human Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

volume

80

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

issue

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

page(s)

371-374

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

cites work

Identification of deletions in the human low density lipoprotein receptor gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A receptor-mediated pathway for cholesterol homeostasis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The LDL receptor gene: a mosaic of exons shared with different proteins

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low-density lipoprotein-receptor gene haplotypes in Afrikaans-speaking patients with homozygous familial hypercholesterolaemia. Further evidence in support of a founder gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ischaemic heart disease mortality rates in white south africans compared with other populations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blot hybridisation analysis of genomic DNA

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3198114

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00273653

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

Dimensions Publication ID

1024935910

0 references

PubMed publication ID

3198114

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3198114

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3198114%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

 

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