Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia
| Title: | Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia |
|---|---|
| Authors: | 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 |
| Source: | In Atherosclerosis March 2021 321:14-20 |
| Database: | ScienceDirect |
| ISSN: | 00219150 |
|---|---|
| DOI: | 10.1016/j.atherosclerosis.2021.02.003 |
| Published in: | Atherosclerosis |
| Language: | English |