Article
Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency.
Atherosclerosis - 1 Apr 2003
Pisciotta Livia, Miccoli Roberto, Cantafora Alfredo, Calabresi Laura, Tarugi Patrizia, Alessandrini Paola, Bittolo Bon Gabriele, Franceschini Guido, Cortese Claudio, Calandra Sebastiano, Bertolini Stefano
Abstract excerpt
Two siblings with high density lipoprotein (HDL) deficiency and no plasma apolipoprotein A-I (Apo A-I) were found to be homozygous for a cytosine deletion in exon 3 of Apo A-I gene (c.85 del C, Q5FsX11). This mutation causes a frameshift leading to a premature stop codon and abolishes the synthesis of Apo A-I. Although both siblings had corneal opacifications and planar xanthomas, only one of them had premature...
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