A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation (Q44843930)

6 December 2017

A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation (English)

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6 December 2017

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Brage Storstein Andresen

series ordinal

3

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6 December 2017

Thomas Koed Doktor

2

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author name string

Gitte Hoffmann Bruun

series ordinal

1

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6 December 2017

12 June 2013

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Molecular Genetics and Metabolism

6 December 2017

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6 December 2017

110

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6 December 2017

1-2

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6 December 2017

122-128

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Human metabolic individuality in biomedical and pharmaceutical research

6 December 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

A genome-wide perspective of genetic variation in human metabolism

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

The human medium chain Acyl-CoA dehydrogenase gene promoter consists of a complex arrangement of nuclear receptor response elements and Sp1 binding sites

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

ESEfinder: A web resource to identify exonic splicing enhancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Predictive identification of exonic splicing enhancers in human genes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Silencer elements as possible inhibitors of pseudoexon splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Systematic identification and analysis of exonic splicing silencers.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

MCAD deficiency in Denmark.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

The Sequence Alignment/Map format and SAMtools

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

An intronic element contributes to splicing repression in spinal muscular atrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Integrating common and rare genetic variation in diverse human populations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

NMD: RNA biology meets human genetic medicine

7 January 2021

1 reference

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Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

BRCA2 T2722R is a deleterious allele that causes exon skipping

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.005

10.1016/J.YMGME.2013.06.005

7 January 2021

Identifiers

DOI

1 reference

release_svtlgcu53feh7cn7ojlfhf6pqq

6 December 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/svtlgcu53feh7cn7ojlfhf6pqq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

23810226

1 reference

PubMed ID

23810226