Publications:

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

Metabolites

Ghaleb, Youmna Y; Elbitar, Sandy S; Philippi, Anne A; El Khoury, Petra P; Azar, Yara Y; Andrianirina, Miangaly M; Loste, Alexia A; Abou-Khalil, Yara Y; Nicolas, Gaël G; Le Borgne, Marie M; Moulin, Philippe P; Di-Filippo, Mathilde M; Charrière, Sybil S; Farnier, Michel M; Yelnick, Cécile C; Carreau, Valérie V; Ferrières, Jean J; Lecerf, Jean-Michel JM; Derksen, Alexa A; Bernard, Geneviève G; Gauthier, Marie-Soleil MS; Coulombe, Benoit B; Lütjohann, Dieter D; Fin, Bertrand B; Boland, Anne A; Olaso, Robert R; Deleuze, Jean-François JF; Rabès, Jean-Pierre JP; Boileau, Catherine C; Abifadel, Marianne M; Varret, Mathilde M

Publication Date: 2022-03-18

Variant appearance in text: LDLR: Ala13Val

PubMed Link: 35323704

Variant Present in the following documents:

• Main text
• metabolites-12-00262.pdf

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Modulation of Amyloidogenesis Controlled by the C-Terminal Domain of Islet Amyloid Polypeptide Shows New Functions on Hepatocyte Cholesterol Metabolism.

Frontiers In Endocrinology

Pulido-Capiz, Angel A; Díaz-Molina, Raúl R; Martínez-Navarro, Israel I; Guevara-Olaya, Lizbeth A LA; Casanueva-Pérez, Enrique E; Mas-Oliva, Jaime J; Rivero, Ignacio A IA; García-González, Victor V

Publication Date: 2018

Variant appearance in text: LDLR: A13V

PubMed Link: 29988450

Variant Present in the following documents:

• fendo-09-00331.pdf

View BVdb publication page