A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia.
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DOI: 10.1016/j.jacl.2017.08.008
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… read more here.
Keywords: cholesterol; cholesterol acyltransferase; lecithin cholesterol; acyltransferase deficiency ... See more keywords