(Q73229414)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

P R Wenham

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

B G Henderson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M D Penney

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

J P Ashby

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

P W Rae

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S W Walker

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

185-192

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

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

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Complete cDNA and derived protein sequence of human apolipoprotein B-100.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Accumulation of "small dense" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Familial defective apolipoprotein B-100: a study of patients from lipid clinics in Scotland and Wales

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Identification of the base substitution responsible for the Ag(x/y) polymorphism of apolipoprotein B-100.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Molecular cloning of human LDL apolipoprotein B cDNA. Evidence for more than one gene per haploid genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3' hypervariable region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Human LDL receptor gene: HincII polymorphism detected by gene amplification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Differences in the Phenotypic Characteristics of Subjects With Familial Defective Apolipoprotein B-100 and Familial Hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2906029-7

10.1016/S0021-9150(96)06029-7

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9105560%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference