Authors: Nielsen, Karsten Bork Sørensen, Suzette Cartegni, Luca Corydon, Thomas Juhl Doktor, Thomas Koed Schroeder, Lisbeth Dahl Reinert, Line Sinnathamby Elpeleg, Orly Krainer, Adrian R Gregersen, Niels Kjems, Jørgen Andresen, Brage Storstein

Citation: Nielsen, Karsten Bork et al., 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, American journal of human genetics , 80(3), 2007, pp. 416-432