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

Y. Ghaleb,S. El Bitar,A. Philippi,P. El Khoury,Y. Azar,M. Andrianirina,A. Loste,Y. Abou-Khalil,G. Nicolas,M. Le Borgne,P. Moulin,M. Di Filippo,S. Charriere,M. Farnier,C. Yelnik,V. Carreau,J. Ferrieres,J. -M. Lecerf,A. Derksen,G. Bernard,M. -S. Gauthier,B. Coulombe, D. Luetjohann, B. Finn,A. Boland,R. Olaso, J-F Deleuze, J-P Rabes,C. Boileau,M. Abifadel,M. Varret

Atherosclerosis（2022）

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关键词

autosomal dominant hypercholesterolemia,linkage analysis,next-generation sequencing,LDL uptake,CYP7A1,LRP6,LDLRAP1,protein structural models,polygenic risk score,oligogenic hypercholesterolemia

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