Article

A Novel LDLR variant in a Ukrainian Patient: A Case Report and Overview of the Disease-Causing LDLR Variants Associated to Familial Hypercholesterolemia

2021-09-07

Abstract excerpt

<title>Abstract</title> <p>Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein-cholesterol levels and it is primarily caused by pathogenic/likely pathogenic variants (P/LPVs) in <italic>LDLR,</italic> <italic>APOB</italic> or <italic>PCSK9</italic> genes.Next Generation Sequencing (NGS) technology allows the evaluation of more genes simultaneously, rising the diagnostic throughput...

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Literature Corpus work: 8dde5dff-981c-5f10-9553-ed7dcf9e6aec
DOI: 10.21203/rs.3.rs-850927/v1

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