Article

Familial hypercholesterolemia: a single-nucleotide variant (SNV) in mosaic at the Low density lipoprotein receptor <i>(LDLR)</i>

2018-02-19

Abstract excerpt

<h4>Introduction</h4> Familial hypercholesterolemia (FH) is most frequently caused by genetic variants in the LDLR gene. Most of LDLR pathogenic variants are missense, followed by splicing and deletion/insertions variants. Mosaicism is a genetic condition in which an individual shows more than one clone of cells with different genotypes. <h4>Objective</h4> Molecular characterization of a patient with hypercho...

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Literature Corpus work: d3ea0fec-ab91-509e-b970-290ca6a2ab5a
DOI: 10.1101/266874

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