(Q46388457)

21 December 2017

title

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule (English)

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21 December 2017

Becker muscular dystrophy

main subject

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1

Akanchha Kesari

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21 December 2017

Eric Hoffman

8

object named as

Eric P Hoffman

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21 December 2017

author name string

Laura N Pirra

2

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21 December 2017

Lakshmi Bremadesam

3

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21 December 2017

Orinthal McIntyre

4

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21 December 2017

Erynn Gordon

5

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21 December 2017

Alberto L Dubrovsky

6

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21 December 2017

V Viswanathan

7

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21 December 2017

publication date

1 May 2008

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21 December 2017

published in

Human Mutation

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21 December 2017

volume

29

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21 December 2017

issue

5

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21 December 2017

page(s)

728-737

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21 December 2017

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Population frequencies of inherited neuromuscular diseases—A world survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Somatic reversion/suppression of the mouse mdx phenotype in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Deletion and duplication screening in the DMD gene using MLPA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Genetics of Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

7 January 2021

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

7 January 2021

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

7 January 2021

Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

7 January 2021

Two hot spots of recombination in the DMD gene correlate with the deletion prone regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

7 January 2021

Duplications in the DMD gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20722

7 January 2021

Identifiers

DOI

10.1002/HUMU.20722

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21 December 2017

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21 December 2017