Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene (Q40550432)

21 September 2017

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379414

nucleic acid amplification techniques

20 September 2022

main subject

1 reference

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20 September 2022

author name string

R. M. Ferrie

1

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20 September 2022

M. J. Schwarz

2

1 reference

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20 September 2022

N. H. Robertson

3

1 reference

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20 September 2022

S. Vaudin

4

1 reference

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20 September 2022

M. Super

5

1 reference

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20 September 2022

G. Malone

6

1 reference

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20 September 2022

S. Little

7

1 reference

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20 September 2022

language of work or name

English

0 references

publication date

1 August 1992

1 reference

PMCID

1682690

full work available at URL

21 September 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1379414/?tool=EBI

1 reference

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1379414/pdf/?tool=EBI

20 September 2022

file format

Portable Document Format

online access status

open access

1 reference

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https://europepmc.org/articles/PMC1682690

20 September 2022

1 reference

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https://europepmc.org/articles/PMC1682690?pdf=render

20 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379414

American Journal of Human Genetics

20 September 2022

published in

1 reference

21 September 2017

51

1 reference

21 September 2017

2

1 reference

21 September 2017

251-262

1 reference

A highly polymorphic locus in human DNA

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Identification of the cystic fibrosis gene: chromosome walking and jumping

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Modification of enzymatically amplified DNA for the detection of point mutations.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Identification of the cystic fibrosis gene: genetic analysis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Benign missense variations in the cystic fibrosis gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Minisatellite repeat coding as a digital approach to DNA typing

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

The Polymerase Chain Reaction in an Anemic Mode: How to Avoid Cold Oligodeoxyribonuclear Fusion

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Detection of specific sequences among DNA fragments separated by gel electrophoresis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Rapid nonradioactive detection of the major cystic fibrosis mutation.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682690

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

17 June 2018

1 reference

12 December 2020

Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK

1 reference

12 December 2020

Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions

1 reference

12 December 2020

Analysis of apolipoprotein E genotypes by the Amplification Refractory Mutation System

1 reference

12 December 2020

Apolipoprotein E genotyping using the polymerase chain reaction and allele-specific oligonucleotide primers

1 reference

12 December 2020

Characterization of polymerase chain reaction amplification of specific alleles

1 reference

12 December 2020

A 3' splice site consensus sequence mutation in the cystic fibrosis gene

1 reference

12 December 2020

PCR test for cystic fibrosis deletion

1 reference

12 December 2020

Simple non-invasive method to obtain DNA for gene analysis

1 reference

12 December 2020

Detection of sickle cell anaemia and thalassaemias

1 reference

12 December 2020

Identifiers

PMCID

1682690

1 reference

21 September 2017

1 reference

PMCID

1682690