Current methods of mutation detection (Q40484307)

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scientific article published on January 1, 1993

Language	Label	Description	Also known as
English	Current methods of mutation detection	scientific article published on January 1, 1993

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

1 reference

Europe PubMed Central

Current methods of mutation detection (English)

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

DNA mutational analysis

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7678126

10 August 2024

author name string

R. G. Cotton

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7678126

10 August 2024

language of work or name

0 references

publication date

1 January 1993

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

full work available at URL

https://api.elsevier.com/content/article/PII:002751079390060S?httpAccept=text/xml

1 reference

10.1016/0027-5107(93)90060-S

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10 August 2024

https://api.elsevier.com/content/article/PII:002751079390060S?httpAccept=text/plain

1 reference

10.1016/0027-5107(93)90060-S

https://api.crossref.org/works/10.1016/0027-5107(93)90060-S

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Mutation Research

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

285

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

125-144

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

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Point mutations in the dystrophin gene

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p53 mutations in colorectal cancer

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Temperature-gradient gel electrophoresis. Thermodynamic analysis of nucleic acids and proteins in purified form and in cellular extracts

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Coupled amplification and sequencing of genomic DNA

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

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Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

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35S-labelled probes improve detection of mismatched base pairs by chemical cleavage

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Complete mutation detection using unlabeled chemical cleavage.

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Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

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Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP

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p53 mutations in non-small cell lung cancer in Japan: association between mutations and smoking

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Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

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A simple and efficient method for attachment of a 40-base pair, GC-rich sequence to PCR-amplified DNA

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Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis

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Primer extension technique for the detection of single nucleotide in genomic DNA.

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

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PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes

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Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa

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Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta

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10 August 2024

DNA sequencing by hybridization: 100 bases read by a non-gel-based method

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10 August 2024

Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels

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Donor-recipient bone-marrow matching by single strand conformation polymorphism analysis

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Rhodopsin mutations in autosomal dominant retinitis pigmentosa

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Allele-specific polymerase chain reaction: a method for amplification and sequence determination of a single component among a mixture of sequence variants

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Capillary gel electrophoresis for rapid, high resolution DNA sequencing

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A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

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Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

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Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

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Isothermal in vitro amplification of DNA by a restriction enzyme/DNA polymerase system

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The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit β-globin DNA

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Detection of beta-thalassemia using an artificial-restriction fragment length polymorphism generated by the polymerase chain reaction

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Detecting single base substitutions as heteroduplex polymorphisms

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Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

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Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

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The ligation amplification reaction (LAR)--amplification of specific DNA sequences using sequential rounds of template-dependent ligation

152

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Specificity of the nick-closing activity of bacteriophage T4 DNA ligase

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10 August 2024

Mutant profiles of selectable genetic elements

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10 August 2024

Nonisotopic SSCP detection in PCR products by ethidium bromide staining

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10 August 2024

Allele specific amplification by tetra-primer PCR.

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10 August 2024

Denaturing gradient gel method for mapping single base changes in human mitochondrial DNA

159

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Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells

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Identifiers

10.1016/0027-5107(93)90060-S

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

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