Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

Molecular Genetics and Metabolism - Tập 96 Số 4 - Trang 245-252 - 2009
Øystein L. Holla1, Sigve Nakken2,3, Morten Mattingsdal2,3, Trine Ranheim1, Knut Erik Berge1, Joep C. Defesche4, Trond P. Leren1
1Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO-0027 Oslo, Norway
2Centre for Molecular Biology and Neuroscience, Rikshospitalet University Hospital, NO-0027 Oslo, Norway
3Institute of Medical Microbiology, Rikshospitalet University Hospital, NO-0027 Oslo, Norway
4Department of Vascular Medicine, Academic Medical Centre, Amsterdam University Hospital, Amsterdam, The Netherlands

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