(Q34265147)

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Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

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Europe PubMed Central

PubMed publication ID

1 August 2017

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Duchenne muscular dystrophy

1 reference

based on heuristic

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author name string

Matsuo M

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Masumura T

2

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Europe PubMed Central

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1 August 2017

Nishio H

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Nakajima T

4

1 reference

Europe PubMed Central

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1 August 2017

Kitoh Y

5

1 reference

Europe PubMed Central

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1 August 2017

Takumi T

6

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1 August 2017

Koga J

7

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Europe PubMed Central

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1 August 2017

Nakamura H

8

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1 August 2017

language of work or name

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publication date

1 June 1991

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Europe PubMed Central

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1 August 2017

Journal of Clinical Investigation

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Europe PubMed Central

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1 August 2017

87

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Europe PubMed Central

PubMed publication ID

1 August 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

2127-2131

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

The length of the downstream exon and the substitution of specific sequences affect pre-mRNA splicing in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Transcription of the dystrophin gene in human muscle and non-muscle tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Splicing of messenger RNA precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Duchenne muscular dystrophy gene expression in normal and diseased human muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Dystrophin gene transcribed from different promoters in neuronal and glial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Improved diagnosis of Duchenne/Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296970

6 July 2018

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2040695

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role for exon sequences and splice-site proximity in splice-site selection

1 reference

https://pubmed.ncbi.nlm.nih.gov/2040695

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splice site selection and ribonucleoprotein complex assembly during in vitro pre-mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/2040695

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1 reference

https://pubmed.ncbi.nlm.nih.gov/2040695

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transcription of the dystrophin gene in Duchenne muscular dystrophy muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/2040695

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI115244

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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