(Q72909985)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8364587%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

title

Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis (English)

1 reference

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30 October 2019

1 reference

4

1 reference

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30 October 2019

author name string

Prior TW

1

1 reference

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30 October 2019

Papp AC

2

1 reference

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30 October 2019

Snyder PJ

3

1 reference

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30 October 2019

Sedra MS

5

1 reference

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30 October 2019

Western LM

6

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30 October 2019

Bartolo C

7

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30 October 2019

Mendell JR

8

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30 October 2019

publication date

1 January 1993

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30 October 2019

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30 October 2019

volume

2

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30 October 2019

issue

3

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30 October 2019

page(s)

192-195

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

30 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020307

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.1380020307

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.1380020307

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.1380020307

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.1380020307

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.1380020307

7 January 2021

A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020307

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.1380020307

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.1380020307

7 January 2021

Point mutations in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020307

7 January 2021

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020307

7 January 2021

Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020307

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020307

7 January 2021

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020307

7 January 2021

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020307

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380020307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8364587%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

1 reference