A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation
- 1 September 2013
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 110 (1-2) , 122-128
Abstract
No abstract availableKeywords
Funding Information
- Medical Research Council, The Novo Nordic Foundation, Aase og Ejnar Danielsens Fond, Oda og Hans Svenningsens Fond and Fonden af 1870
This publication has 28 references indexed in Scilit:
- Integrating common and rare genetic variation in diverse human populationsNature, 2010
- The Sequence Alignment/Map format and SAMtoolsBioinformatics, 2009
- Human Splicing Finder: an online bioinformatics tool to predict splicing signalsNucleic Acids Research, 2009
- Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNAThe American Journal of Human Genetics, 2007
- Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'BMC Bioinformatics, 2007
- 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 EnhancerThe American Journal of Human Genetics, 2007
- An intronic element contributes to splicing repression in spinal muscular atrophyProceedings of the National Academy of Sciences, 2007
- Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2The American Journal of Human Genetics, 2006
- Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing SignalsJournal of Computational Biology, 2004
- Listening to silence and understanding nonsense: exonic mutations that affect splicingNature Reviews Genetics, 2002