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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Detalles Bibliográficos
Autores principales: Concolino, Paola, De Paolis, Elisa, Moffa, Simona, Onori, Maria Elisabetta, Soldovieri, Laura, Ricciardi Tenore, Claudio, De Bonis, Maria, Rabacchi, Claudio, Santonocito, Concetta, Rinelli, Martina, Calandra, Sebastiano, Giaccari, Andrea, Urbani, Andrea, Minucci, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298720/
https://www.ncbi.nlm.nih.gov/pubmed/37372455
http://dx.doi.org/10.3390/genes14061275

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