(Q31033018)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

capillary electrophoresis

5 December 2019

main subject

0 references

electrophoresis

0 references

single-nucleotide polymorphism

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Cecilia Giunta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

Beat Steinmann

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Johann Peter Hossle

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Robert Hellwig

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

publication date

1 January 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

58-68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11754104%20AND%20SRC:MED&resulttype=core&format=json

Quantitation of polymerase chain reaction products by capillary electrophoresis using laser fluorescence

5 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Marfan Database (third edition): new mutations and new routines for the software

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Direct sequencing of enzymatically amplified human genomic DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Linkage disequilibrium and the search for complex disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

DNA technology for the detection of common genetic variants that predispose to thrombophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Capillary electrophoresis for the detection of known point mutations by single-nucleotide primer extension and laser-induced fluorescence detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Automated mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

The genetic basis of chronic granulomatous disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Fluorescence-based method for measuring and determining the mechanisms of recombination in quantitative PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

dbSNP: a database of single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Efficiency of DNA replication in the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Alternatives to least squares linear regression analysis for computation of standard curves for quantitation by high performance liquid chromatography: applications to clinical pharmacology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

The influence of fluorescent dye structure on the electrophoretic mobility of end-labeled DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

The Sequence of the Human Genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Denaturing high-performance liquid chromatography: A review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Correction of the mutation responsible for sickle cell anemia by an RNA-DNA oligonucleotide

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

BstUI and DpnII RFLPs at the COL5A1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Single nucleotide primer extension: quantitative range, variability, and multiplex analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

From gels to chips: "minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

PCR bias toward the wild-type k-ras and p53 sequences: implications for PCR detection of mutations and cancer diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

7 January 2021

Inhibition of PCR amplification by a point mutation downstream of a primer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

7 January 2021

Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

7 January 2021

Preferential PCR amplification of alleles: mechanisms and solutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10013

7 January 2021