(Q41952976)

English

Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene

scientific article published on July 1995

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene (English)

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

hypercholesterolemia

0 references

1 reference

based on heuristic

Vilmundur Gudnason

2

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

author name string

Whittall R

1

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Weavind GP

3

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Day LB

4

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Humphries SE

5

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Day IN

6

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

language of work or name

0 references

publication date

1 July 1995

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

32

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

7

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

509-515

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

Influence of nearest neighbor sequence on the stability of base pair mismatches in long DNA; determination by temperature-gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

Electrophoresis for genotyping: microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

Identification of deletions in the human low density lipoprotein receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

Large-scale and automated DNA sequence determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

5 June 2018

Use of the single-strand conformational polymorphism method to detect recurrent and novel mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia: detection of a novel mutation Asp200-->Gly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

18 August 2018

Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050541

2 December 2018

Handling of large (300 x 400 mm), thin (0.4 mm) polyacrylamide gels and recovery as dried gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytosine methylation: the pros and cons of DNA methylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chemical cleavage of mismatch to detect mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7562961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.32.7.509

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q41952976&oldid=1930278359"