Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

Autosomal Dominant Hypercholesterolemia (ADH) is a genetic disorder caused by pathogenic variants in <i>LDLR</i>, <i>APOB</i>, <i>PCSK9</i> and <i>APOE</i> genes. We sought to identify new candidate genes responsible for the ADH phenotype in patients w...

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Bibliographic Details
Main Authors:	Youmna Ghaleb, Sandy Elbitar, Anne Philippi, Petra El Khoury, Yara Azar, Miangaly Andrianirina, Alexia Loste, Yara Abou-Khalil, Gaël Nicolas, Marie Le Borgne, Philippe Moulin, Mathilde Di-Filippo, Sybil Charrière, Michel Farnier, Cécile Yelnick, Valérie Carreau, Jean Ferrières, Jean-Michel Lecerf, Alexa Derksen, Geneviève Bernard, Marie-Soleil Gauthier, Benoit Coulombe, Dieter Lütjohann, Bertrand Fin, Anne Boland, Robert Olaso, Jean-François Deleuze, Jean-Pierre Rabès, Catherine Boileau, Marianne Abifadel, Mathilde Varret
Format:	Article
Language:	English
Published:	MDPI AG 2022-03-01
Series:	Metabolites
Subjects:	autosomal dominant hypercholesterolemia linkage analysis next-generation sequencing LDL uptake <i>CYP7A1</i> <i>LRP6</i>
Online Access:	https://www.mdpi.com/2218-1989/12/3/262

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https://www.mdpi.com/2218-1989/12/3/262