(Q71842057)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599634%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis (English)

1 reference

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21 October 2019

author name string

den Dunnen JT

3

1 reference

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21 October 2019

A. L. Kneppers

1

1 reference

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5 June 2024

P. P. Deutz-Terlouw

2

1 reference

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5 June 2024

J. T. den Dunnen

3

1 reference

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5 June 2024

G. J. van Ommen

4

1 reference

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5 June 2024

E. Bakker

5

1 reference

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5 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7599634

5 June 2024

publication date

1 January 1995

1 reference

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full work available at URL

21 October 2019

https://doi.org/10.1002/humu.1380050308

online access status

open access

1 reference

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https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380050308

5 June 2024

1 reference

DOI

10.1002/HUMU.1380050308

https://api.crossref.org/works/10.1002/HUMU.1380050308

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380050308

5 June 2024

1 reference

DOI

10.1002/HUMU.1380050308

https://api.crossref.org/works/10.1002/HUMU.1380050308

5 June 2024

1 reference

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21 October 2019

volume

5

1 reference

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21 October 2019

issue

3

1 reference

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21 October 2019

page(s)

235-242

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599634%20AND%20SRC:MED&resulttype=core&format=json

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

21 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

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/10.1002%2FHUMU.1380050308

7 January 2021

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Point mutation in the human dystrophin gene: identification through western blot analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

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/10.1002%2FHUMU.1380050308

7 January 2021

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Point mutations in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050308

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050308

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7599634%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference