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Intronic Variant Screening with Targeted Next-Generation Sequencing Reveals First Pseudoexon in LDLR in Familial Hypercholesterolemia.

Laurens F. Reeskamp,Manon Balvers,Jorge Peter,Laura van de Kerkhof,Lisette N. Klaaijsen,Mahdi M. Motazacker,Aldo Grefhorst,Natal A. W. van Riel,G. Kees Hovingh,Joep C. Defesche,Linda Zuurbier

Atherosclerosis（2021）

Cited 10|Views25
Key words
Familial hypercholesterolemia,LDL cholesterol,Intron,LDL receptor,RNA splicing,Next-generation sequencing
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