Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers
Author:
Affiliation:
1. Department of Biochemistry and Molecular Biology University of Southern Denmark Odense M. Denmark
2. Department of Molecular Biology and Biochemistry, The Villum Center for Bioanalytical Sciences University of Southern Denmark Odense Denmark
Funder
Natur og Univers, Det Frie Forskningsråd
Novo Nordisk Fonden
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24321
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5. Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism
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