Article
A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.
Biochimica et biophysica acta - 21 May 2002
Pisciotta Livia, Cantafora Alfredo, De Stefano Francesco, Langheim Silvia, Calandra Sebastiano, Bertolini Stefano
Abstract excerpt
Familial hypercholesterolemia (FH) is a common genetic disorder caused by mutations of the LDL-receptor gene and transmitted as a co-dominant trait. However, there are some forms of hypercholesterolemia which have a recessive type of transmission. We have identified a subject with the clinical phenotype of heterozygous FH whose parents had normal plasma lipid values, suggesting a recessive type of transmission....
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