Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and premature CVD. The well-known genetic background are mutations in <i>...

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Bibliographic Details
Main Authors: Lena Rutkowska, Kinga Sałacińska, Dominik Salachna, Paweł Matusik, Iwona Pinkier, Łukasz Kępczyński, Małgorzata Piotrowicz, Ewa Starostecka, Andrzej Lewiński, Agnieszka Gach
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Genes
Subjects:
familial hypercholesterolemia
genetics
next generation sequencing
<i>LDLR</i> gene
dyslipidemia
novel variant
Online Access:https://www.mdpi.com/2073-4425/13/6/999

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https://www.mdpi.com/2073-4425/13/6/999

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