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Clinical Expression of Familial Hypercholesterolemia in Patients from France and French Canada Carrying Identical by Descent Pathogenic LDLR Gene Variants: A Proof-of-Concept Study

2024-09-06

Abstract excerpt

<h4>Background: </h4> Studying patients carrying identical by descent (IBD) pathogenic gene variants allows to control for the disease-causing genetic background and to more accurately document the impact of modifiers. Familial hypercholesterolemia (FH) is characterized by elevated LDL-c levels, premature atherosclerosis and is often caused by defects in the LDLR gene. There is a high prevalence of FH in French Ca...

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Literature Corpus work: c68c9475-3a0f-5450-9c2f-605fb9fd995a
DOI: 10.20944/preprints202409.0522.v1

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