Article
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.
Human mutation - 1 Nov 2011
Holleboom Adriaan G, Kuivenhoven Jan A, Peelman Frank, Schimmel Alinda W, Peter Jorge, Defesche Joep C, Kastelein John J P, Hovingh G Kees, Stroes Erik S, Motazacker Mohammad Mahdi
Abstract excerpt
Lecithin:cholesterol acyltransferase (LCAT) is crucial to the maturation of high-density lipoprotein (HDL). Homozygosity for LCAT mutations underlies rare disorders characterized by HDL-cholesterol (HDL-c) deficiency while heterozygotes have half normal HDL-c levels. We studied the prevalence of LCAT mutations in referred patients with low HDL-c to better understand the molecular basis of low HDL-c in our...
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