LDLR gene rearrangements in Czech FH patients likely arise from one mutational event

Large deletions and duplications within the low-density lipoprotein receptor (LDLR) gene make up approximately 10% of LDLR pathogenic variants found in Czech patients with familial hypercholesterolemia. The goal ...

Source: Lipids in Health and Disease - February 2, 2024 Category: Lipidology Authors: Kate řina Konečná, Petra Zapletalová, Tomáš Freiberger and Lukáš Tichý Tags: Hypothesis Source Type: research