Work

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

Year: 2007

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1086/511992

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

Institutions: Aarhus University, Aarhus University Hospital, Memorial Sloan Kettering Cancer Center, Hadassah Medical Center, Cold Spring Harbor Laboratory

Language: English

Topic: RNA Research and Splicing

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Institute of General Medical Sciences

Awards: G2253152666, Biochemistry of Pre-mRNA Splicing, G871733819

OpenAlex ID: W1964668995

FWCI: 8.142

Cites: 53

Cited by: 150

Related to: 10