Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8668548 | Journal of Clinical Lipidology | 2017 | 8 Pages |
Abstract
A patient from Romania with extraordinarily high total cholesterol levels and clinical and biochemical features consistent with familial lecithin-cholesterol acyltransferase deficiency is reported. The genetic analysis performed on our proband showed a novel homozygous mutation on codon 119 of lecithin-cholesterol acyltransferase gene that causes the substitution of glycine by aspartate. The same mutation, also in homozygosis, was observed in her older sister, whereas his brother presented it in heterozygosis.
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Authors
David MD, Ildefonso MD, Josep PhD, Francisco MD, PhD, Miguel MD, PhD,