Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia
| Autor: | Reeskamp, Laurens F., Balvers, Manon, Peter, Jorge, van de Kerkhof, Laura, Klaaijsen, Lisette N., Motazacker, Mahdi M., Grefhorst, Aldo, van Riel, Natal A.W., Hovingh, G. Kees, Defesche, Joep C., Zuurbier, Linda |
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| Zdroj: | In Atherosclerosis March 2021 321:14-20 |
| Databáze: | ScienceDirect |
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