Identification and Functional Analysis of <i>APOB</i> Variants in a Cohort of Hypercholesterolemic Patients

Identification and Functional Analysis of <i>APOB</i> Variants in a Cohort of Hypercholesterolemic Patients

Mutations in <i>APOB</i> are the second most frequent cause of familial hypercholesterolemia (FH). <i>APOB</i> is highly polymorphic, and many variants are benign or of uncertain significance, so functional analysis is necessary to ascertain their pathogenicity. Our aim was t...

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Bibliographic Details
Main Authors: Carmen Rodríguez-Jiménez, Gema de la Peña, Javier Sanguino, Sara Poyatos-Peláez, Ana Carazo, Pedro L. Martínez-Hernández, Francisco Arrieta, José M. Mostaza, Diego Gómez-Coronado, Sonia Rodríguez-Nóvoa
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:International Journal of Molecular Sciences
Subjects:
familial hypercholesterolemia
<i>APOB</i> variants
low-density lipoprotein
functional assays
co-segregation
Online Access:https://www.mdpi.com/1422-0067/24/8/7635

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https://www.mdpi.com/1422-0067/24/8/7635

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