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Implication of heterozygous variants in genes of the leptin-melanocortin pathway in severe obesity

Archive ouverte | Courbage, Sophie | CCSD

International audience. Context: Unlike homozygous variants, the implication of heterozygous variants on the leptin-melanocortin pathway in severe obesity has not been established.Objective: To describe the frequenc...

Implication of Heterozygous Variants in Genes of the Leptin–Melanocortin Pathway in Severe Obesity

Archive ouverte | Courbage, Sophie | CCSD

International audience. Abstract Context Unlike homozygous variants, the implication of heterozygous variants on the leptin–melanocortin pathway in severe obesity has not been established. Objective To describe the ...

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France

Archive ouverte | Wintjens, René | CCSD

International audience. Autosomal dominant hypercholesterolemia (ADH) is a human disorder characterized phenotypically by isolated high-cholesterol levels. Mutations in the low density lipoprotein receptor (LDLR), A...

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