(Q46047462)

19 December 2017

title

Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy (English)

1 reference

19 December 2017

main subject

spinal muscular atrophy

1 reference

Chun-Chi Wang

1

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19 December 2017

Jan-Gowth Chang

series ordinal

2

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19 December 2017

Yuh-Jyh Jong

series ordinal

3

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19 December 2017

Shou-Mei Wu

series ordinal

4

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19 December 2017

publication date

1 April 2009

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19 December 2017

published in

Electrophoresis

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19 December 2017

volume

30

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19 December 2017

issue

7

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19 December 2017

page(s)

1102-1110

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19 December 2017

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

cites work

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

When Is a Deletion Not a Deletion? When It Is Converted

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Determination of SMN1 and SMN2 copy number using TaqMan technology

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Use of multiplex PCR and CE for gene dosage quantification and its biomedical applications for SMN, PMP22, and alpha-globin genes

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Validation of fluorescence-labeled artificial nonhuman sequences for single-strand conformation polymorphism mutation detection in familial hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Genotyping of simple sequence repeats--factors implicated in shadow band generation revisited

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Separation of double-stranded DNA fragments by capillary electrophoresis in interpenetrating networks of polyacrylamide and polyvinylpyrrolidone

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Separation of double-stranded DNA fragments by capillary electrophoresis using polyvinylpyrrolidone and poly(N,N-dimethylacrylamide) transient interpenetrating network

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

A DNA sieving matrix with thermally tunable mesh size

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Quasi-interpenetrating network formed by polyacrylamide and poly(N,N-dimethylacrylamide) used in high-performance DNA sequencing analysis by capillary electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

A new quasi-interpenetrating network formed by poly(N-acryloyl-tris-(hydroxymethyl)aminomethane and polyvinylpyrrolidone: separation matrix for double-stranded DNA and single-stranded DNA fragments by capillary electrophoresis with UV detection

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Scanning the beta-globin gene for mutations in large populations by denaturing capillary and gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800375

7 January 2021

Identifiers

DOI

10.1002/ELPS.200800375

1 reference

19 December 2017

release_izytxmqfonbhzp7mbvxggs3yoy

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/izytxmqfonbhzp7mbvxggs3yoy

24 November 2022

mapped directly with Wikidata item

1 reference

19 December 2017