Article
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.
Molecular genetics and metabolism - 1 Apr 2009
Holla Øystein L, Nakken Sigve, Mattingsdal Morten, Ranheim Trine, Berge Knut Erik, Defesche Joep C, Leren Trond P
Abstract excerpt
Screening for mutations in the low density lipoprotein receptor (LDLR) gene has identified more than 1000 mutations as the cause of familial hypercholesterolemia (FH). In addition, numerous intronic mutations with uncertain effects on pre-mRNA splicing have also been identified. In this study, we have selected 18 intronic mutations in the LDLR gene for comprehensive studies of their effects on pre-mRNA splicing....
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