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

The idea that point mutations in exons may affect splicing is intriguing and adds an additional layer of complexity when evaluating their possible effects. Even in the best-studied examples, the molecular mechanisms are not fully understood. Here, we use patient cells, model minigenes, and in vitro...

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Main 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
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2007
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1821120/
https://ncbi.nlm.nih.gov/pubmed/17273963
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