(Q44292872)

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Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12551913%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12551913%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

lactic acidosis

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based on heuristic

inferred from title

1

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17 December 2019

author name string

Michèle Brivet

2

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17 December 2019

Guy Touati

3

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17 December 2019

Paula Grabowski

4

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17 December 2019

Marc Abitbol

5

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17 December 2019

Cécile Marsac

6

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17 December 2019

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publication date

27 January 2003

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17 December 2019

Journal of Biological Chemistry

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17 December 2019

278

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17 December 2019

11768-11772

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17 December 2019

14

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17 December 2019

A computational analysis of sequence features involved in recognition of short introns

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Alternative RNA splicing in the nervous system

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

A new regulatory protein, KSRP, mediates exon inclusion through an intronic splicing enhancer

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Inhibition by SR proteins of splicing of a regulated adenovirus pre-mRNA.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

The SR splicing factors ASF/SF2 and SC35 have antagonistic effects on intronic enhancer-dependent splicing of the beta-tropomyosin alternative exon 6A

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5' splice sites

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Antagonism between RSF1 and SR proteins for both splice-site recognition in vitro and Drosophila development.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Human genomes, public and private

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211106200

21 January 2018

Identifiers

10.1074/JBC.M211106200

1 reference

Europe PubMed Central

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17 December 2019

release_ywigarmxznbolccphaiqy5425y

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https://api.fatcat.wiki/v0/release/ywigarmxznbolccphaiqy5425y

24 November 2022

based on heuristic

mapped directly with Wikidata item

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12551913%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

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