Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

Next-generation sequencing (NGS) is nowadays commonly used for clinical purposes, and represents an efficient approach for the molecular diagnosis of familial hypercholesterolemia (FH). Although the dominant form of the disease is mostly due to the low-density lipoprotein receptor (LDLR) small-scale...

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Bibliographic Details
Main Authors: Paola Concolino, Elisa De Paolis, Simona Moffa, Maria Elisabetta Onori, Laura Soldovieri, Claudio Ricciardi Tenore, Maria De Bonis, Claudio Rabacchi, Concetta Santonocito, Martina Rinelli, Sebastiano Calandra, Andrea Giaccari, Andrea Urbani, Angelo Minucci
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
familial hypercholesterolemia
copy number variations (CNVs)
next-generation sequencing
<i>LDLR</i> gene
LDL cholesterol
Alu sequences
Online Access:https://www.mdpi.com/2073-4425/14/6/1275

Internet

https://www.mdpi.com/2073-4425/14/6/1275

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