Article
Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.
Atherosclerosis - 1 Apr 2006
Idzior-Waluś Barbara, Sieradzki Jacek, Kostner Gert, Małecki Maciej T, Klupa Tomasz, Wesołowska Teresa, Rostworowski Witold, Hartwich Jadwiga, Waluś Małgorzata, Kieć Aldona Dembińska, Naruszewicz Marek
Abstract excerpt
Familial LCAT deficiency (FLD) is a rare genetic disorder associated with corneal opacities, anaemia and proteinuria with renal failure. Here we report detailed analyses on plasma lipids, lipoproteins, and the molecular defect in two siblings from a Polish family presenting classical symptoms of FLD and their family members with newly discovered Val309Met mutation in exon 6 of LCAT gene. Both patients displayed...
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