(Q33905096)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Rapid direct sequence analysis of the dystrophin gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Jonathan K Alder

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

Andrew von Niederhausern

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Diane M Dunn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Jerry R Mendell

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Robert B Weiss

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

11 March 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 November 2019

published in

1 reference

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1 November 2019

volume

72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

931-939

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

The human genome browser at UCSC

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Initial sequencing and analysis of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Consed: a graphical tool for sequence finishing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Base-calling of automated sequencer traces using phred. II. Error probabilities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Molecular diagnosis and modern management of Duchenne muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Population frequencies of inherited neuromuscular diseases—A world survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180355

Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects

5 July 2018

1 reference

12 December 2020

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

1 reference

12 December 2020

Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations

1 reference

12 December 2020

Double-gradient DGGE for optimized detection of DNA point mutations

1 reference

12 December 2020

Dystrophin gene transcripts skipping the mdx mutation

1 reference

12 December 2020

Identifiers

DOI

10.1086/374176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12632325%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PubMed publication ID

12632325

1 reference