(Q35435218)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

0 references

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Maritha Kotze

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

R Thiart

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

C L Scholtz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

J Vergotine

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

C F Hoogendijk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

J N de Villiers

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

H Nissen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

D Gaffney

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M S Hoffs

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

W J Vermaak

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

1 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

8 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

514-519

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds.

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Lipoproteins: are they important components of host defense?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Urbanization and the risk for chronic diseases of lifestyle in the black population of the Cape Peninsula, South Africa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Low-density lipoprotein receptor-deficient mice are protected against lethal endotoxemia and severe gram-negative infections

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

A diversity of genetic hyperlipoproteinaemias in black patients. Experience at the Lipid Clinics at Groote Schuur Hospital and Red Cross War Memorial Children's Hospital, Cape Town

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Ethnic immunity to coronary heart disease?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

The genetical archaeology of the human genome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

FH Tulsa-1 and -2: two unique alleles for familial hypercholesterolemia presenting in an affected two-year-old African-American male

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Phenotypic expression of familial hypercholesterolaemia in central and southern Tunisia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

A host of hypercholesterolaemic homozygotes in South Africa.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734636

Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis

26 September 2018

1 reference

12 December 2020

Homozygous familial hypercholesterolaemia

1 reference

12 December 2020

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene

1 reference

12 December 2020

Clinically applicable mutation screening in familial hypercholesterolemia

1 reference

12 December 2020

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

1 reference

12 December 2020

Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred

1 reference

12 December 2020

Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

1 reference

12 December 2020

Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia

1 reference

12 December 2020

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.7.514

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882754%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

10882754

1 reference