(Q35888853)

English

A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy

scientific article published in January 1994

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scholarly article

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28 October 2019

A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279470%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Becker muscular dystrophy

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author name string

Hagiwara Y

1

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28 October 2019

Nishio H

2

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28 October 2019

Kitoh Y

3

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28 October 2019

Takeshima Y

4

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28 October 2019

Narita N

5

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28 October 2019

Wada H

6

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28 October 2019

Yokoyama M

7

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28 October 2019

Nakamura H

8

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28 October 2019

Matsuo M

9

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28 October 2019

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publication date

1 January 1994

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28 October 2019

American Journal of Human Genetics

1 reference

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28 October 2019

54

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28 October 2019

1

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28 October 2019

53-61

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28 October 2019

Point mutation in a Becker muscular dystrophy patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Substrate specificity of a multifunctional calmodulin-dependent protein kinase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 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=1918065

27 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=1918065

27 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=1918065

27 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=1918065

27 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=1918065

27 July 2018

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 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=1918065

27 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=1918065

27 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 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=1918065

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Dystrophin is transcribed in brain from a distant upstream promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Point mutations in the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Evolutionary conservation of the dystrophin central rod domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

27 July 2018

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918065

24 September 2018

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutation in the human dystrophin gene: identification through western blot analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Premature chain termination mutation causing Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nonsense mutation in the human dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/8279470

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279470%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279470%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

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