Article
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
European journal of human genetics : EJHG - 1 Apr 2018
Ghaleb Youmna, Elbitar Sandy, El Khoury Petra, Bruckert Eric, Carreau Valérie, Carrié Alain, Moulin Philippe, Di-Filippo Mathilde, Charriere Sybil, Iliozer Harout, Farnier Michel, Luc Gérald, Rabès Jean-Pierre, Boileau Catherine, Abifadel Marianne, Varret Mathilde
Abstract excerpt
Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in approximately 80% of the cases. Polygenic forms of hypercholesterolemia may be present among patients clinically diagnosed with FH but with no identified mutation (FH mutation-negative (FH/M-)). To...
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