(Q40786087)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

review article

1 reference

title

The rapid detection of unknown mutations in nucleic acids (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

Grompe M

series ordinal

1

1 reference

23 September 2017

language of work or name

English

0 references

publication date

1 October 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

111-117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng1093-111

28 October 2019

exact match

0 references

cites work

The spectrum of cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

Diagnosis of Ewing's sarcoma and peripheral neuroectodermal tumour based on the detection of t(11;22) using fluorescence in situ hybridisation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

Geographical clusters of dengue virus type 2 isolates based on analysis of infected cell RNA by the chemical cleavage at mismatch method

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Methods for analysis of multiple cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

A one-step efficient and specific non-radioactive non-fluorescent method for in situ hybridization of banded chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

A new method for sequencing DNA

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Nonisotopic SSCP detection in PCR products by ethidium bromide staining

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Temperature gradient gel electrophoresis: detection of a single base substitution in the cattle beta-lactoglobulin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Hydrolink gels: a rapid and simple approach to the detection of DNA mutations in thromboembolic disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

The molecular basis of the sparse fur mouse mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Complete mutation detection using unlabeled chemical cleavage.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Detection of single-base mutations by reaction of DNA heteroduplexes with a water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Coupled amplification and sequencing of genomic DNA

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

New protocols for DNA sequencing with dye terminators

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

High-sensitive fluorescent DNA sequencing and its application for detection and mass-screening of point mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Detection of single DNA base mutations with mismatch repair enzymes

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Illegitimate transcription: transcription of any gene in any cell type

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-111

7 January 2021

Identifiers

DOI

10.1038/NG1093-111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252035%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 October 2019

1034562333

0 references

1 reference