(Q35778429)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

4

1 reference

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24 January 2020

author name string

Bo Lyun Lee

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Sook Hyun Nam

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Jun Hwa Lee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Munhyang Lee

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Jeehun Lee

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

publication date

23 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

Journal of Korean Medical Science

24 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

page(s)

274-280

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies

24 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Microarray-based mutation detection in the dystrophin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Experience and strategy for the molecular testing of Duchenne muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

MLPA and MAPH: new techniques for detection of gene deletions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Population frequencies of inherited neuromuscular diseases—A world survey

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Point mutations in the dystrophin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Small mutations of the DMD gene in Taiwanese families.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Deletion and duplication screening in the DMD gene using MLPA.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Dystrophinopathy in isolated cases of myopathy in females

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286774

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene

23 October 2018

1 reference

12 December 2020

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

1 reference

12 December 2020

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

1 reference

12 December 2020

Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection

1 reference

12 December 2020

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients

1 reference

12 December 2020

Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them

1 reference

12 December 2020

10.3346/JKMS.2012.27.3.274

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

release_ok6njz2bljbmfkh3rggtdsj4bq

24 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ok6njz2bljbmfkh3rggtdsj4bq

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

PubMed publication ID

22379338

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22379338%20AND%20SRC:MED&resulttype=core&format=json